Syndromes of the Head and Neck

by Gorlin, Robert J.; Cohen, M. Michael; Hennekam, Raoul C.M.

• ISBN13: 9780195118612
• ISBN10: 0195118618
• Edition: 4th
• Format: Hardcover
• Copyright: 2001-09-27
• Publisher: Oxford University Press

Summary

This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.

Table of Contents

Deformations and Disruptions	1	(13)
Craniofacial Deformations	1	(3)
Nasal Deformation	1	(1)
Auricular Deformation	1	(1)
Mandibular Deformation	1	(1)
Torticollis	2	(1)
Torticollis-Caused Plagiocephaly	2	(1)
Deformation-Induced Craniosynostosis and Plagiocephaly	2	(1)
Abnormal Fetal Presentation	3	(1)
Potter Sequence (Oligohydramnios Sequence)	4	(6)
Prenatal and Perinatal Factors	5	(1)
Renal Pathology	5	(1)
Craniofacial Features	6	(1)
Skin	6	(1)
Skeletal and Limb Anomalies	6	(1)
Genital Anomalies	6	(1)
Lungs	6	(1)
Gastrointestinal System	6	(1)
Cardiovascular Anomalies	6	(2)
Other Findings	8	(1)
Diagnosis, Differential Diagnosis, and Laboratory Aids	8	(2)
Amnion Rupture Sequence	10	(3)
Limb Defects	12	(1)
Craniofacial Anomalies	12	(1)
Thoracic, Abdominal, and Other Defects	12	(1)
Differential Diagnosis	12	(1)
Laboratory Aids	12	(1)
Fetal Brain Disruption Sequence	13	(1)
Differential Diagnosis	13	(1)
Teratogenic Agents	14	(21)
Alcohol Embryopathy	14	(3)
Angiotension-Converting Enzyme (ACE) Inhibitor Embryopathy	17	(1)
Chorionic Villus Sampling Embryopathy	17	(1)
Cocaine Embryopathy	17	(1)
Cyclophosphamide (Cytoxan) Embryopathy	18	(1)
Cytomegalovirus and Toxoplasmosis Embryopathies	18	(1)
Diabetic Embryopathy	18	(1)
Diethylstilbestrol Embryopathy	19	(1)
Fluconazole Embryopathy	20	(1)
Folate Antagonist (Aminopterin, Methotrexate) Embryopathy	20	(1)
Clinical Findings	20	(1)
Differential Diagnosis	20	(1)
Hydantoin Embryopathy	21	(1)
Hyperthermic Embryopathy	22	(1)
Maternal Phenylketonuria Embryopathy	23	(1)
Misoprostol Embryopathy	23	(1)
Primidone Embryopathy	24	(1)
Radiation Embryopathy	24	(1)
Retinoid Embryopathy	24	(1)
Clinical Findings	24	(1)
Rubella Embryopathy	25	(1)
Tetracycline Embryopathy	26	(1)
Thalidomide Embryopathy	27	(1)
Clinical Findings	27	(1)
Toluene Embryopathy	28	(1)
Clinical Findings	28	(1)
Trimethadione Embryopathy	29	(1)
Valproate Embryopathy	29	(2)
Varicella Embryopathy	31	(1)
Warfarin and Vitamin K Deficiency Embryopathy	31	(3)
Clinical Findings	31	(1)
Differential Diagnosis	32	(2)
Other Teratogenic Agents	34	(1)
Chromosomal Syndromes: Common and/or Well-Know Syndromes	35	(41)
Trisomy 21 Syndrome (Down Syndrome)	35	(7)
Prevalence	35	(1)
Cytogenetics and Recurrence Risks	35	(1)
Screening	35	(1)
Mortality	35	(1)
Common Clinical Diagnostic Features	36	(1)
Growth and Skeletal Abnormalities	36	(1)
Central Nervous System and Performance	36	(2)
Craniofacial Manifestations	38	(1)
Cardiovascular System	39	(1)
Gastrointestinal System	39	(1)
Skin	39	(1)
Dermatoglyphics	39	(1)
Other Anomalies	39	(1)
Hematologic System	39	(1)
Tumors	39	(1)
Immune System	39	(1)
Differential Diagnosis	39	(1)
Laboratory Aids	39	(3)
Trisomy 13 (Patau) Syndrome	42	(3)
Growth	43	(1)
Central Nervous System	43	(1)
Craniofacial Features	43	(1)
Neck	43	(1)
Cardiovascular System	43	(1)
Genitalia	43	(1)
Limb Anomalies	43	(1)
Other Findings	43	(1)
Hematologic Findings	43	(1)
Neoplasia	43	(1)
Anatomic Features	43	(1)
Differential Diagnosis	44	(1)
Laboratory Aids	44	(1)
Trisomy 18 (Edwards) Syndrome	45	(3)
Growth	45	(1)
Central Nervous System	45	(1)
Craniofacial Features	46	(1)
Limbs	46	(1)
Cardiovascular System	46	(1)
Urogenital System	47	(1)
Other Anomalies	47	(1)
Anatomical Studies	47	(1)
Neoplasia	47	(1)
Differential Diagnosis	47	(1)
Laboratory Aids	47	(1)
del(4p) Syndrome (Wolf-Hirschhorn Syndrome)	48	(3)
del(5p) Syndrome (cri-du-chat Syndrome)	51	(1)
Trisomy 8 (Warkany) Syndrome	51	(2)
dup(9p) Syndrome	53	(1)
del(11)(p13) Syndrome (Aniridia-Wilms Tumor Syndrome WAGR)	53	(1)
del(13q) Syndrome	54	(1)
del(18p) Syndrome	55	(1)
del(18q) (De Grouchy) Syndrome	56	(1)
Turner Syndrome	57	(5)
Cytogenetics	57	(1)
Candidate Genes	57	(1)
Growth	57	(1)
Central Nervous System	58	(1)
Head and Neck Aabnormalities	59	(1)
Chest	59	(1)
Genitalia	59	(1)
Cardiovascular Abnormalities	60	(1)
Renal Anomalies	60	(1)
Skeletal Abnormalities	60	(1)
Dermatologic Features	60	(1)
Neoplasia	60	(1)
Autoimmune Disease	60	(1)
Differential Diagnosis	60	(1)
Laboratory Aids	61	(1)
Klinefelter Syndrome and Its Variants	62	(4)
Growth	62	(1)
Central Nervous System and Performance	62	(1)
Genitalia	62	(1)
Secondary Sexual Characteristics	62	(1)
Hormones	62	(1)
Dermatologic Findings	62	(1)
Craniofacial Features	62	(1)
Congenital Malformations	62	(1)
Other Findings	62	(1)
Neoplasia	63	(1)
48, XXYY	63	(1)
48, XXXY	63	(1)
49, XXXXY	63	(1)
46, XX Males	64	(1)
Differential Diagnosis	64	(1)
Laboratory Aids	65	(1)
47, XYY Males and Other Poly-Y Conditions	66	(1)
Growth	66	(1)
Central Nervous System and Performance	66	(1)
Gonadal Status and Fertility	66	(1)
Congenital Malformations	66	(1)
Dermatologic Findings	66	(1)
Dentition	66	(1)
Differential Diagnosis	66	(1)
Laboratory Findings	66	(1)
47, XXX, 48, XXXX and 49, XXXXX Syndromes	67	(1)
47, XXX	67	(1)
48, XXXX	67	(1)
49, XXXXX	67	(1)
Triploidy Syndrome	68	(3)
Fragile X Syndrome (Martin-Bell Syndrome, Macro-Orchidism-Marker X Syndrome)	71	(5)
Facies	71	(2)
Central Nervous System	73	(1)
Connective Tissues	73	(1)
Genitourinary	73	(1)
Oral Findings	73	(1)
Differential Diagnosis	73	(1)
Laboratory Tests	73	(3)
Chromosomal Syndromes: Unusual Variants	76	(43)
del(1p) Syndrome	76	(1)
dup(1p) Syndrome	76	(1)
del(1q) Syndrome	76	(1)
Proximal Interstitial Deletion	76	(1)
Intermediate Interstitial Deletions	77	(1)
Distal Deletion	77	(1)
dup(1q) Syndrome	77	(1)
del(2p) Syndrome	78	(1)
dup(2p) Syndrome	78	(1)
del(2q) Syndrome	79	(1)
dup(2q) Syndrome	80	(1)
Chromosome 2 Pericentric Inversion of 2p 12 --- q14	80	(1)
del(3p) Syndrome	80	(1)
dup(3p) Syndrome	81	(1)
del(3q) Syndrome	82	(1)
dup(3q) Syndrome	82	(1)
dup(4p) Syndrome	83	(1)
del(4q) Syndrome	83	(1)
dup(4q) Syndrome	84	(1)
dup(5p) Syndrome	85	(1)
del(5q) Syndrome	86	(1)
dup(5q) Syndrome	87	(1)
del(6p) Syndrome	87	(1)
dup(6p) Syndrome	87	(1)
del(6q) Syndrome	88	(1)
del(6)(q11-q16)	88	(1)
del(6)(q15-q25)	88	(1)
del(6)(q25-qter)	88	(1)
dup(6q) Syndrome	88	(1)
del(7p) Syndrome	89	(1)
dup(7p) Syndrome	89	(1)
del(7q) Syndrome	90	(1)
dup(7q) Syndrome	91	(1)
r(7) Syndrome	91	(1)
del(8p) Syndrome	92	(1)
dup(8p) Syndrome	92	(1)
Mosaic Tetraploidy (8p) Syndrome	92	(1)
dup(8q) Syndrome	92	(1)
del(9p) Syndrome	93	(1)
Tetrasomy (9p) Syndrome	94	(1)
del(9q) Syndrome	94	(1)
dup(9q) Syndrome	95	(1)
Trisomy 9 Syndrome	95	(1)
del(10p) Syndrome	96	(1)
dup(10p) Syndrome	97	(1)
del(10q) Syndrome	97	(1)
dup(10q) Syndrome	97	(1)
Unbalanced 11/12 Translocation	98	(1)
del(11p) Syndrome (Potocki-Shaffer Syndrome)	99	(1)
del(11q) Syndrome (Jacobsen Syndrome)	99	(1)
dup(11p) Syndrome	100	(1)
Pallister-Killian Syndrome (Mosaic Tetrasomy 12p Isochromosome 12p Syndrome)	100	(2)
del(14q) Syndrome	102	(1)
dup(14q) Syndrome	102	(1)
Trisomy 14 Mosaicism Syndrome	103	(1)
Uniparental Disomy 14	103	(1)
Paternal Disomy 14	103	(1)
Maternal Disomy 14	103	(1)
del(15q) Syndrome	103	(1)
dup(15q) Syndrome	104	(1)
Trisomy and Terasomy 15 Mosaicism Syndromes	104	(1)
inv dup(15) Syndrome	105	(1)
dup(16p) Syndrome	105	(1)
del(16q) Syndrome	106	(1)
dup(16q) Syndrome	106	(1)
Trisomy 16 and Partial Trisomy 16	107	(1)
Smith-Magenis Syndrome [del(17p11.2)]	107	(1)
dup(17p) Syndrome	108	(1)
del(17q) Syndrome	108	(1)
dup(17q) Syndrome	108	(1)
dup(19q) Syndrome and Mosatic Trisomy 19	109	(1)
del(20p) Syndrome	109	(1)
dup(20p) Syndrome	110	(1)
dup(20q) Syndrome	110	(1)
Monosomy 21 and del(21q) Syndrome	110	(1)
Tetrasomy 22pter q11 or Cat Eye Syndrome	111	(1)
del(22q) Syndrome	112	(1)
Trisomy 22 (dup(22q) Syndrome	113	(1)
Tetraploidy and Tetraploid/Diploid Mosaicism Syndrome	114	(1)
Nijmegen Breakage Syndrome (Seemanova Syndrome)	115	(1)
Immune Deficiency with Centromeric Instability of Chromosomes 1, 9, and 16 (ICF Syndrome)	116	(3)
Facial Changes	116	(1)
Growth and Mental Retardation	116	(1)
Immune Deficienty	116	(1)
Other Findings	117	(1)
Laboratory Findings	117	(2)
Metabolic Disorders	119	(59)
Mucopolysaccharidoses	119	(20)
Mucopolysaccharidosis I-H (Hurler Syndrome)	120	(1)
Facies	121	(1)
Musculoskeletal System	121	(1)
Other Findings	121	(1)
Oral Manifestations	121	(1)
Diagnosis	122	(1)
Laboratory Aids	122	(2)
Mucopolysaccharidosis I-S (Scheie Syndrome)	124	(1)
Facies	124	(1)
Skeletal System	124	(1)
Other Findings	124	(1)
Oral Manifestations	124	(1)
Laboratory Aids	124	(1)
Mucopolysaccharidosis I-H/S (Hurler-Scheie Syndrome)	125	(1)
Oral Findings	125	(1)
Laboratory Aids	125	(2)
Mucopolysaccharidosis II (Hunter Syndrome)	127	(1)
Facies	127	(1)
Skeletal System	127	(1)
Other Findings	127	(1)
Eye Findings	127	(1)
Central Nervous System	127	(1)
Skin Findings	128	(1)
Oral Findings	128	(1)
Complications	128	(1)
Laboratory Findings	128	(1)
Mucopolysaccharidosis III (Sanfilippo A, B, C, and D Syndrome)	129	(1)
Facies	130	(1)
Skeletal System	130	(1)
Other Findings	130	(1)
Oral Manifestations	130	(1)
Laboratory Findings	130	(1)
Mucopolysaccharidosis IVA and IVB (Morquio Syndrome)	131	(1)
MPS IVA	132	(1)
MPS IVB	132	(1)
Differential Diagnosis	132	(2)
Laboratory Findings	134	(1)
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)	135	(1)
Facies	136	(1)
Musculoskeletal System	136	(1)
Other Findings	136	(1)
Oral Manifestations	136	(1)
Differential Diagnosis	136	(1)
Laboratory Findings	136	(1)
Mucopolysaccharidosis VII (sly Syndrome, β-Glucuronidase Deficiency)	137	(1)
Facies	137	(1)
Skeletal System	138	(1)
Other Findings	138	(1)
Oral Manifestations	138	(1)
Differential Diagnosis	138	(1)
Laboratory Findings	138	(1)
Mucopolysaccharidosis IX	139	(1)
Oligosaccharidoses and Related Disorders	139	(15)
Gmi Gangliosidosis, Type 1	139	(1)
Facies	139	(1)
Skeletal System	139	(1)
Central Nervous System	139	(1)
Other Findings	139	(1)
Oral Manifestations	139	(1)
Differential Diagnosis	139	(1)
Laboratory Findings	140	(1)
Fucosidosis	140	(1)
Facies	140	(1)
Skeletal System	140	(1)
Central Nervous System	140	(1)
Other Findings	141	(1)
Oral Findings	141	(1)
Laboratory Findings	141	(1)
Aspartylglucosaminuria	141	(1)
Facies	141	(1)
Skeletal Manifestations	142	(1)
Nervous System	142	(1)
Skin	142	(1)
Other Findings	142	(1)
Oral Manifestations	142	(1)
Laboratory Findings	142	(1)
α-Mannosidosis	143	(1)
Facies	143	(1)
Central Nervous System	143	(1)
Eyes and Ears	143	(1)
Musculoskeletal System	143	(1)
Other Findings	144	(1)
Oral Findings	144	(1)
Laboratory Aids	144	(1)
β-Mannosidosis	144	(1)
Facies	144	(1)
Central Nervous System	144	(1)
Eyes and Ear	144	(1)
Musculoskeletal System	144	(1)
Other Findings	144	(1)
Laboratory Aids	144	(1)
Sialidosis (Neuraminidase/Sialidase Deficiency)	145	(1)
Differential Diagnosis	145	(1)
Laboratory Findings	145	(2)
Galactosialidosis	147	(1)
Early-Infantile Type	147	(1)
Late-Infantile Type	147	(1)
Juvenile/Adult Type	148	(1)
Laboratory Findings	148	(1)
I-Cell Disease (Mucolipidosis II)	148	(1)
Facies	148	(1)
Musculoskeletal System	149	(1)
Other Findings	149	(1)
Oral Manifestations	149	(1)
Laboratory Findings	150	(1)
Mucolipidosis III (Pseudo-Hurler Polydystrophy)	150	(1)
Facies	151	(1)
Eyes	151	(1)
Musculoskeletal System	151	(1)
Skin Findings	151	(1)
Laboratory Findings	151	(1)
Sialic Acid Storage Diseases (Includes Salla Disease)	152	(1)
Facies	152	(1)
Eye Findings	152	(1)
Organomegaly	152	(1)
Neurologic Findings	152	(1)
Differential Diagnosis	152	(1)
Laboratory Findings	152	(1)
Mucolipidosis IV (Berman Syndrome)	153	(1)
Facies	153	(1)
Eyes	153	(1)
Organomegaly	153	(1)
Skeletal Anomalies	153	(1)
Neurologic	153	(1)
Differential Diagnosis	153	(1)
Laboratory Findings	153	(1)
Mucosulfatidosis (Austin Syndrome, Multiple Sulfatase Deficiency)	153	(1)
Laboratory Findings	154	(1)
Other Metabolic Disorders with Dysmorphic Features	154	(10)
Fabry Syndrome (Angiokeratoma Corporis Diffusum Universale)	154	(1)
Skin	154	(1)
Eyes	154	(1)
Cardiac, Cerebral, and Renal Vascular Manifestations	155	(1)
Acroparesthesias	155	(1)
Other Clinical Findings	155	(1)
Oral Manifestations	155	(1)
Differential Diagnosis	155	(1)
Laboratory Aids	156	(1)
Homocystinuria (Cystathionine Synthase Deficiency)	157	(1)
Pathophysiology	158	(1)
Clinical Manifestations	158	(1)
Eyes	158	(1)
Musculoskeletal System	158	(1)
Thromboembolic Events	159	(1)
Central Nervous System	159	(1)
Other Findings	159	(1)
Oral Findings	159	(1)
Diagnosis and Laboratory Aids	159	(1)
Differential Diagnosis	159	(2)
Hypophosphatasia	161	(1)
Genetics and Biochemistry	162	(1)
Clinical Features	162	(1)
Infantile	163	(1)
Childhood	163	(1)
Adult	163	(1)
Oral Manifestations	163	(1)
Pathology	163	(1)
Diagnosis and Laboratory Aids	163	(1)
Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism)	164	(4)
Genetics	165	(1)
Craniofacial Findings	165	(1)
Musculoskeletal Changes	165	(1)
Calcifications	166	(1)
Endocrine Findings	166	(1)
Differential Diagnosis	166	(1)
Laboratory Aids	166	(2)
Zellweger Syndrome (Cerebrohepatorenal Syndrome)	168	(6)
Craniofacial Features	169	(1)
Central Nervous System	170	(1)
Liver	171	(1)
Kidney	171	(1)
Pulmonary and Cardiovascular Findings	171	(1)
Skeletal Findings	171	(1)
Other Findings	171	(1)
Differential Diagnosis	171	(1)
Laboratory Aids	171	(3)
Carbohydrate-Deficient Glycoprotein Syndromes (Congenital Disorders of Glycosylation)	174	(2)
Laboratory Findings	174	(1)
Differential Diagnosis	175	(1)
Molybdenum Cofactor Deficiency	176	(2)
Laboratory Findings	177	(1)
Syndromes Affecting Bone: The Osteogenesis Imperfectas	178	(14)
The Osteogenesis Imperfectas	178	(14)
Molecular Pathology	178	(1)
Type I	179	(1)
General Features	179	(1)
Facies	179	(1)
Ophthalmologic Abnormalities	179	(1)
Otolaryngologic Abnormalities	179	(1)
Neurologic Manifestations	179	(1)
Cardiovascular Involvement	180	(1)
Joint Abnormalities	180	(1)
Skeletal Manifestations	180	(1)
Oral Manifestations	180	(1)
Other Abnormalities	180	(1)
Type II	180	(1)
General Features	180	(1)
Facies	181	(1)
Ophthalmologic Findings	181	(1)
Cardiovascular System	182	(1)
Skeletal Manifestations	182	(1)
Oral Abnormalities	182	(1)
Type III	182	(1)
General Features	182	(1)
Ophthalmologic Abnormalities	183	(1)
Otolaryngologic Abnormalities	183	(1)
Neurologic Abnormalities	183	(1)
Cardiovascular System	183	(1)
Joint Abnormalities	183	(1)
Skeletal Findings	183	(1)
Oral Abnormalities	184
Type IV	183	(1)
General Features	183	(1)
Facies	183	(1)
Ophthalmologic Abnormalities	184	(1)
Otolaryngologic Findings	184	(1)
Neurologic Manifestations	184	(1)
Cardiovascular System	184	(1)
Joint Abnormalities	184	(1)
Skeletal Abnormalities	184	(1)
Oral Findings	184	(1)
Other Features	184	(1)
Differential Diagnosis	184	(4)
Laboratory Aids	188	(4)
Syndromes Affecting Bone: Chondrodysplasias and Chondrodystrophies	192	(89)
Achondrogenesis	192	(5)
Facies	194	(1)
Skeletal Alterations	194	(1)
Type 1A (Houston-Harris)	195	(1)
Type 1B (Fraccaro)	195	(1)
Type 2 (Langer-Saldino)	195	(1)
Mild Type 2 (Hypochondrogenesis)	195	(1)
Pathologic Findings	195	(1)
Other Findings	195	(1)
Oral Manifestations	195	(1)
Differential Diagnosis	195	(1)
Laboratory Aids	196	(1)
Achondroplasia	197	(5)
Molecular and Histological Findings	198	(1)
Growth and Development	198	(1)
Facies and Skull	198	(1)
Central Nervous System	198	(1)
Skeletal System	199	(1)
Otolaryngologic Findings	199	(1)
Differential Diagnosis	199	(1)
Laboratory Aids	199	(3)
Hypochondroplasia	202	(1)
Differential Diagnosis	202	(1)
Acrodysostosis	203	(2)
Acromesomelic Dysplasia	205	(2)
Acromicric Dysplasia	207	(1)
Atelosteogenesis Type I	208	(1)
Atelosteogenesis Type II (De la Chapelle Syndrome)	209	(1)
Atelosteogenesis Type III	210	(1)
Lethal Skeletal Dysplasia with Gracile Bones (Osteocraniostenosis)	211	(1)
Boomerang Dysplasia	211	(2)
Burton Syndrome	213	(1)
Campomelic Dysplasia	213	(4)
Differential Diagnosis	215	(1)
Laboratory Findings	215	(2)
Cartilage-Hair Hypoplasia (McKusick-type Metaphyseal Dysplasia)	217	(3)
Growth	217	(1)
Facies and Hair	217	(1)
Skeletal Alterations	217	(1)
Infections	217	(1)
Malignancy	218	(1)
Other Findings	218	(1)
Differential Diagnosis	218	(1)
Laboratory Aids	219	(1)
Metaphyseal Dysplasia, Type Jansen	220	(2)
Chondrodysplasia Punctata (General)	222	(7)
Conradi-Hunermann Disease: X- Linked Dominant Type	222	(1)
Facies	222	(1)
Eyes	223	(1)
Skin	223	(1)
Musculoskeletal Alterations	223	(1)
Other Manifestations	223	(1)
Laboratory Aids	223	(1)
Chondrodysplasia Punctata, Rhizomelic Type	224	(1)
Facies	224	(1)
Eyes	224	(1)
Skin	224	(1)
Musculoskeletal Alterations	224	(1)
Oral Manifestations	225	(1)
Other	225	(1)
Laboratory Aids	225	(1)
Chondrodysplasia Punctata, X-Linked Recessive Type	226	(1)
Facies	226	(1)
Eyes	226	(1)
Skin	226	(1)
Musculoskeletal Alterations	226	(1)
Other	227	(1)
Laboratory Aids	227	(1)
Chondrodysplasia Punctata, Sheffield Type (and Brachytelephalangic Type)	227	(1)
Chondrodysplasia Punctata, Tibia-Metacarpal Type	228	(1)
Other Disorders with Stippled Epiphyses	228	(1)
Diastrophic Dysplasia	229	(3)
Facies	229	(1)
Musculoskeletal Alterations	229	(1)
Oral Manifestations	230	(1)
Differential Diagnosis	230	(1)
Laboratory Aids	230	(2)
Pseudodiastrophic Dysplasia	232	(1)
Dyggve-Melchior-Clausen Syndrome	233	(2)
Facies	233	(2)
Central Nervous System	235	(1)
Skeletal Changes	235	(1)
Radiographic Changes	235	(1)
Differential Diagnosis	235	(1)
Laboratory Aids	235	(1)
Dyssegmental Dysplasia, Type Silverman-Handmaker	235	(2)
Dyssegmental Dysplasia, Type Rolland-Desbuquois	237	(2)
Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)	239	(3)
Facies	239	(1)
Skeletal Anomalies	239	(1)
Heart	240	(1)
Hair and Nails	240	(1)
Eyes	240	(1)
Genitourinary System	240	(1)
Central Nervous System	241	(1)
Oral Manifestations	241	(1)
Differential Diagnosis	241	(1)
Laboratory Aids	241	(1)
Fibrochondrogenesis	242	(2)
Geleophysic Dysplasia	244	(1)
Kniest Dysplasia (Metatropic Dysplasia, Type II)	245	(3)
Facies	246	(1)
Musculoskeletal Alterations	246	(2)
Kyphomelic Dysplasia	248	(1)
Lethal Short-Limbed Dysplasias	249	(10)
Lethal Short-Limbed Dysplasia with Platyspondyly	249	(1)
Torrance Type	249	(1)
San Diego Type	249	(1)
Calgary Type	250	(1)
Luton Type	250	(1)
Yamagata Type	250	(1)
Perth Type	250	(1)
Shiraz Type	250	(1)
Short-Rib Syndromes	250	(1)
Type I (Saldino-Noonan Type)	250	(1)
Type II (Majewski Type)	250	(2)
Type III (Verma-Naumoff Type)	252	(1)
Type IV (Beemer-Langer Type)	253	(1)
Lethal Short-Limbed Dysplasias with Decreased Bone Density	253	(1)
Epiphyseal Stippling---Osteoclast Hyperplasia	253	(1)
Piepkorn Dysplasia	253	(1)
Lethal Short-Limbed Dysplasias with Increased Bone Density	253	(1)
Blomstrand Dysplasia	253	(2)
Raine Syndrome	255	(1)
Koide Dysplasia	255	(1)
Lethal Short-Limbed Dysplasia with Fragmented Bones	255	(1)
Astley-Kendall Dysplasia	255	(1)
Dappled Diaphyseal Dysplasia	256	(1)
Greenberg Dysplasia	256	(1)
Lethal Short-Limbed Dysplasia: Miscellaneous Type	257	(1)
Holmgren-Connor Dysplasia	257	(2)
Megepiphyseal Dysplasia	259	(1)
Metatropic Dysplasia	259	(3)
Skeleton	260	(1)
Other Findings	261	(1)
Laboratory Aids	261	(1)
Nance-Sweeney Chondrodysplasia	262	(1)
Opsismodysplasia	263	(1)
Osteoglophonic Dysplasia	264	(1)
Craniofacial Findings	264	(1)
Musculoskeletal Findings	264	(1)
Other Findings	264	(1)
Differential Diagnosis	264	(1)
Schneckenbecken Dysplasia	265	(1)
Spondylo(meta)(epiphyseal) Dysplasias	266	(7)
Spondyloepiphyseal Dysplasia Congenita	266	(1)
Clinical Findings	266	(1)
Radiographic Findings	267	(1)
Differential diagnosis	267	(4)
Spondyloepimetaphyseal Dysplasia with Joint Laxity	271	(2)
Thanatophoric Dysplasia	273	(4)
Epidemiology	273	(1)
Histology and Pathogenesis	273	(1)
Nosology and Genetics	273	(1)
Natural History	273	(1)
Craniofacial Features	273	(1)
Neuropathology	274	(1)
Other Abnormalities	274	(1)
Prenatal diagnosis	274	(1)
Differential Diagnosis	274	(3)
Unique Skeletal Dysplasia, Developmental Delay, and Acanthosis Nigricans (SADDAN)	277	(1)
Skin	277	(1)
Skeletal System	277	(1)
Central Nervous System	277	(1)
Spondyloepiphyseal Dysplasia, Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation	278	(1)
Cerebro-Ocular-Dental-Auricular-Skeletal (CODAS) Syndrome	278	(1)
Multicentric Osteolysis, Torg-Like	279	(1)
``Baby Rattle'' Pelvis Dysplasia	280	(1)
Syndromes Affecting Bone: Craniotubular Bone disorders	281	(24)
General Considerations	281	(1)
Craniometaphyseal Dysplasia	281	(2)
Craniodiaphyseal Dysplasia	283	(2)
Craniometadiaphyseal Dysplasia, Wormian Bone Type	285	(1)
Osteopetrosis	285	(5)
Severe Autosomal Recessive Osteopetrosis (Albers-Schonberg Disease)	285	(1)
Clinical findings	286	(1)
Musculoskeletal Findings	286	(1)
Hematopoietic Findings	287	(1)
Oral Manifestations	287	(1)
Other Findings	287	(1)
Laboratory Findings	287	(1)
Mild Autosomal Recessive Osteopetrosis	287	(1)
Autosomal Recessive Osteopetrosis with Renal Tubular Acidosis	287	(1)
Benign Autosomal Dominant Osteopetrosis	288	(1)
Clinical Findings	288	(1)
Radiologic Findings	289	(1)
Diagnosis	289	(1)
Oculodentoosseous Dysplasia (Oculodentodigital Syndrome)	290	(2)
Craniofacial Findings	290	(1)
Ocular Findings	290	(1)
Musculoskeletal Findings	291	(1)
Oral Findings	291	(1)
Other Findings	291	(1)
Differential Diagnosis	291	(1)
Frontometaphyseal Dysplasia	292	(2)
Craniofacial Features	292	(1)
Musculoskeletal System	292	(1)
Radiographic Findings	292	(2)
Other Findings	294	(1)
Differential Diagnosis	294	(1)
Dysosteosclerosis	294	(2)
Craniofacial Findings	294	(1)
Musculoskeletal Findings	294	(2)
Van Buchem Disease and Pseudo-Van Buchem Disease	296	(1)
Craniofacial Findings	296	(1)
Musculoskeletal Findings	296	(1)
Sclerosteosis	296	(3)
Autosomal Dominant Osteosclerosis (Endosteal Hyperostosis, Worth Type)	299	(1)
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease)	299	(2)
Osteopathia Striata with Cranial Sclerosis	301	(2)
Hyperphosphatasemia	303	(1)
Diaphyseal Medullary Stenosis and Malignant Fibrous Histiocytoma (Arnold-Hardcastle Syndrome)	304	(1)
Syndromes Affecting Bone: Other Skeletal Dysplasias	305	(61)
Autosomal Recessive Mesomelic Dwarfism	305	(1)
Calvarial Doughnut Lesions, Osteoporosis, and Dentigerous Cysts	305	(1)
Campomelia, Cervical Lymphocele, Polysplenia, Multicystic Dysplastic Kidneys, and Cleft Lip or Palate (Cumming Syndrome)	305	(1)
Cleidocranial Dysplasia	306	(4)
Facies and General Appearance	306	(1)
Cranium	306	(1)
Clavicle	307	(1)
Other Skeletal Deformities	307	(1)
Other Findings	307	(1)
Oral Manifestations	307	(1)
Differential Diagnosis	307	(2)
Laboratory Aids	309	(1)
Dysplastic Clavicle, Sparse Hair, and Digital Anomalies (Yunis-Varon Syndrome)	310	(2)
Fibrodysplasia Ossificans Progressiva	312	(3)
Genetics	312	(1)
Pathogenesis	312	(1)
Musculoskeletal Findings	313	(1)
Other Findings	314	(1)
Differential Diagonosis	314	(1)
Laboratory Aids	314	(1)
Hajdu-Cheney Syndrome (Acroosteolysis)	315	(3)
Facies	315	(1)
Skin	316	(1)
Central Nervous System	316	(1)
Musculoskeletal Alternations	317	(1)
Genitourinary Findings	317	(1)
Other Findings	317	(1)
Oral Manifestations	317	(1)
Differential Diagnosis	317	(1)
Laboratory Aids	317	(1)
Infantile Cortical Hyperostosis (Caffey-Silverman Syndrome)	318	(3)
Facies	319	(1)
Soft Tissues	319	(1)
Fever and Irritability	319	(1)
Skeletal System	319	(1)
Oral Manifestations	319	(1)
Pathology	319	(1)
Differential Diagnosis	320	(1)
Laboratory Aids	320	(1)
Kenny-Caffey Syndrome (Tubular Stenosis, Sanjad-Sakati Syndrome)	321	(2)
Lenz-Majewski Syndrome	323	(2)
Facies	323	(1)
Musculoskeletal	323	(1)
Genitourinary	323	(1)
Central Nervous System	323	(1)
Skin	323	(1)
Oral Manifestations	323	(1)
Differential diagnosis	323	(1)
Laboratory Aids	323	(2)
Mandibuloacral Dysplasia	325	(2)
Facies	325	(1)
Musculoskeletal	325	(1)
Skin	325	(1)
Oral Manifestations	325	(1)
Other Findings	326	(1)
Differential Diagnosis	326	(1)
Laboratory Findings	326	(1)
Marfan Syndrome	327	(7)
Criteria	327	(1)
Craniofacial Features	328	(1)
Musculoskeletal System	329	(1)
Ocular Changes	329	(1)
Cardiovascular Abnormalities	329	(1)
Pulmonary Pathology	330	(1)
Skin and Integument	331	(1)
Miscellaneous Findings	331	(1)
Differential Diagnosis	331	(1)
Laboratory Aids	331	(3)
McCune-Albright Syndrome	334	(5)
Skeletal Manifestations	335	(1)
Cutaneous Manifestations	336	(1)
Endocrine Manifestations	337	(1)
Central Nervous System	337	(1)
Neoplasms	337	(1)
Other Findings	337	(1)
Differential Diagnosis	337	(1)
Laboratory Aids	337	(2)
Melnick-Needles Syndrome (Osteodysplasty)	339	(4)
Facies	340	(1)
Skeletal Alterations	340	(2)
Other Findings	342	(1)
Oral Manifestations	342	(1)
Differential Diagnosis	342	(1)
Laboratory Findings	342	(1)
Osteochondrodysplasia with Hypertrichosis (Cantu Syndrome)	343	(1)
Pachydermoperiostosis (touraine-Solente-gole Sundrome, Primary (Idiopathic) Hypertrophic Osteoarthropathy)	343	(4)
Facies, Skin, and Skin Appendages	345	(1)
Skeletal Alternations	346	(1)
Differential Diagnosis	346	(1)
Pycnodysostosis	347	(3)
Facies	347	(1)
Skeletal Alternations	347	(2)
Eyes	349	(1)
Oral Manifestations	349	(1)
Differential Diagnosis	349	(1)
Laboratory Aids	349	(1)
Osteosclerosis Syndrome, Stanescu Type	350	(1)
Stickler Syndrome (Hereditary Arthroophthalmopathy)	351	(3)
Facies	351	(1)
Eye	351	(1)
Ears	351	(2)
Musculoskeletal Findings	353	(1)
Other Findings	353	(1)
Differential Diagnosis	353	(1)
Short Stature, Low Nasal Bridge, Cleft Palate, and Sensorineural Hearing Loss (OSMED, Megepiphyseal Dysplasia, Non-Ocular Stickler Syndrome)	354	(1)
Weissenbacher-Zweymuller Phenotype	354	(3)
SPONASTRIME Dysplasia	357	(1)
Winchester Syndrome	357	(2)
Mesomelic Short Stature, Acral Synostosis, Unusual Facies, Umbilical Anomalies, and Agenesis of Soft Palate (Verloes-David Syndrome)	359	(1)
Metaphyseal Acroscyphodysplasia	360	(1)
Micromelic Dysplasia with Dislocated Radius	360	(1)
Oto-Facio-Osseous-Gonadal Syndrome	361	(1)
Pointer Syndrome	361	(1)
Schimke Immuno-Osseous Dysplasia	361	(3)
Spondylocarpotarsal Synostosis Syndrome	364	(1)
Unusual Facies, Rhizomelic Bone Dysplasia with Club-Like Femora (Omodysplasia)	365	(1)
Proportionate Short Stature Syndromes	366	(33)
Aarskog Syndrome (Facial-Digital-Genital Syndrome)	366	(2)
Facies	366	(1)
Musculoskeletal System	366	(1)
Genital Anomalies	366	(1)
Other Findings	366	(1)
Oral Manifestations	367	(1)
Differential Diagnosis	367	(1)
Bloom Syndrome	368	(4)
Genetics	368	(1)
Cytogenetics	369	(1)
Growth	369	(1)
Performance	369	(1)
Skin	369	(1)
Immunologic Features	370	(1)
Endocrine Findings	370	(1)
Neoplasia	370	(1)
Other Findings	370	(1)
Differential Diagnosis	370	(1)
Laboratory Aids	371	(1)
De Lange Syndrome (Brachmann-de Lange Syndrome)	372	(5)
Clinical Variability and Diagnosis	372	(1)
Growth	372	(2)
Central Nervous System	374	(1)
Craniofacial Features	374	(1)
Limbs	375	(1)
Skin	375	(1)
Genitourinary System	375	(1)
Gastrointestinal Abnormalities	375	(1)
Cardiovascular System	375	(1)
Other Findings	375	(1)
Differential Diagnosis	375	(1)
Laboratory Aids	375	(2)
Dubowitz Syndrome	377	(2)
Growth	377	(1)
Facies	377	(1)
Skin	378	(1)
Central Nervous System	378	(1)
Other Findings	378	(1)
Oral Manifestations	378	(1)
Differential Diagnosis	378	(1)
Hallermann-Streiff Syndrome	379	(3)
Natural History	379	(1)
Craniofacial Features	379	(2)
Central Nervous System	381	(1)
Other Findings	381	(1)
Differential Diagnosis	381	(1)
Rubinstein-Taybi Syndrome	382	(5)
Genetics	382	(1)
Systemic Manifestations	383	(1)
Growth	383	(1)
Performance and Central Nervous System	383	(2)
Craniofacial Features	385	(1)
Hands and Feet	385	(1)
Skeletal System	385	(1)
Genitourinary System	385	(1)
Other Findings	385	(1)
Differential Diagnosis	385	(2)
Seckel Syndrome and Other Microcephalic Primordial Dwarfisms	387	(4)
Seckel Syndrome	387	(1)
Growth and Development	388	(1)
Craniofacial Features	388	(1)
Other Findings	388	(1)
Osteodysplastic Primordial Dwarfism	388	(1)
Differential Diagnosis	389	(2)
Silver-Russell Syndrome	391	(3)
Growth	393	(1)
Facies	393	(1)
Musculoskeletal System	393	(1)
Urogenital Anomalies	393	(1)
Other Findings	393	(1)
Oral Manifestations	393	(1)
Differential Diagnosis	393	(1)
Laboratory Findings	393	(1)
3-M Syndrome	394	(2)
Mulibrey Nanism	396	(3)
Facies	396	(1)
Eyes	397	(1)
Heart	397	(1)
Liver	397	(1)
Central Nervous System	397	(1)
Skin	397	(1)
Musculoskeletal System	397	(1)
Miscellaneous Findings	397	(1)
Oral Manifestations	397	(1)
Differential Diagnosis	397	(2)
Overgrowth Syndromes and Postnatal Onset Obesity Syndromes	399	(29)
Beckwith-Wiedemann Syndrome (EMG (Exomphalos-Macroglossia-Gigantism) Syndrome)	399	(6)
Etiology	399	(1)
Pathogenesis	399	(1)
Infant Mortality	399	(1)
Growth	399	(1)
Performance and Central Nervous System	399	(1)
Craniofacial Features	400	(1)
Visceromegaly	400	(1)
Histopathology	401	(1)
Cariovascular Anomalies	401	(1)
Other Abnormalities	402	(1)
Neoplasms	402	(1)
Prenatal Diagnosis	403	(1)
Differential Diagnosis	403	(1)
Laboratory Findings	403	(2)
Hemihyperplasia (Hemihypertrophy)	405	(3)
Clinical Manifestations	405	(1)
Neoplasms	406	(1)
Differential Diagnosis	406	(1)
Laboratory Aids	407	(1)
Sotos Syndrome	408	(2)
Growth and Skeletal Findings	408	(1)
Performance and CNS Abnormalities	408	(1)
Craniofacial Features	408	(1)
Other Findings	408	(1)
Neoplasms	408	(1)
Laboratory Findings	409	(1)
Differential Diagnosis	409	(1)
Nevo Syndrome	410	(1)
Bannayan-Riley-Ruvalcaba Syndrome (Bannayan-Zonana Syndrome, Ruvalcaba-Myhre Syndrome, Riley-Smith Syndrome)	410	(3)
Craniofacial Features	411	(1)
Skin	411	(1)
Hashimoto Thyroiditis	411	(1)
Gastrointestinal System	411	(1)
Musculoskeletal System	412	(1)
Neoplasms	412	(1)
Other Abnormalities	412	(1)
Differential Diagnosis	412	(1)
Laboratory Aids	412	(1)
Weaver Syndrome	413	(2)
Growth and Skeletal Findings	413	(1)
Performance and Central Nervous System	413	(1)
Craniofacial Features	413	(1)
Limbs	413	(1)
Neoplasms	413	(1)
Differential Diagnosis	413	(2)
Marshall-Smith Syndrome	415	(2)
Growth, Performance, and Natural History	415	(1)
Craniofacial Features	415	(1)
Musculoskeletal System	416	(1)
Other Abnormalities	416	(1)
Differential Diagnosis	416	(1)
Simpson-Golabi-Behmel Syndrome	417	(2)
Etiology	417	(1)
Clinical Findings	417	(1)
Growth	417	(1)
Central Nervous System	417	(1)
Craniofacial Abnormalities	417	(1)
Extremities	418	(1)
Musculoskeletal Anomalies	418	(1)
Skin	418	(1)
Embryonal Neoplasia	418	(1)
Other Findings	419	(1)
Prader-Willi Syndrome	419	(5)
Etiology	419	(1)
Familial Occurrences and Recurrence Risk	420	(1)
Genotype-Phenotype Correlations	420	(1)
Natural History	420	(1)
Growth	420	(1)
Central Nervous System and Performance	421	(1)
Albinoidism	421	(1)
Obesity	421	(1)
Sexual Development	421	(1)
Craniofacial Features	421	(1)
Limbs	421	(1)
Skeletal System	421	(1)
Hematologic Findings	421	(1)
Differential Diagnosis	421	(1)
Laboratory Aids	422	(2)
Cohen Syndrome	424	(2)
Growth	424	(1)
Central Nervous System and Performance	424	(1)
Facial Features	425	(1)
Eyes	425	(1)
Limbs	425	(1)
Cariovascular System	425	(1)
Laboratory Findings	425	(1)
Differential Diagnosis	425	(1)
Camera-Marugo-Cohen Syndrome	426	(1)
Borjeson-Forssman-Lehmann Syndrome	426	(2)
Hamartoneoplastic Syndromes	428	(66)
Acanthosis Nigricans	428	(4)
Skin	428	(1)
Oral Manifestations	428	(1)
Malignant Neoplasia	429	(1)
Insulin-Resistant Types	429	(1)
Obesity	429	(1)
Other Endocrinopathies	430	(1)
Congenital Syndromes	430	(1)
Autosomal Dominant Type	431	(1)
Drug-Induced Type	431	(1)
Miscellaneous Types	431	(1)
Differential Diagnosis	431	(1)
Laboratory Aids	431	(1)
Cowden Syndrome (Multiple Hamartoma and Carcinoma Syndrome, Lhermitte-Duclos Disease)	432	(5)
Facies	432	(1)
Skin	432	(1)
Breasts	433	(1)
Brain	433	(1)
Thyroid	434	(1)
Gastrointestinal Tract	434	(1)
Other Neoplasms	434	(1)
Skeletal Abnormalities	435	(1)
Genitourinary Abnormalities	435	(1)
Other Findings	435	(1)
Oral Manifestations	435	(1)
Differential Diagnosis	435	(1)
Laboratory Aids	435	(2)
Gardner Syndrome	437	(7)
Osteomas	438	(1)
Epidermoid Cysts	438	(1)
Gastrointestinal System	438	(1)
Desmoid Tumors	439	(1)
Other Neoplasms	439	(1)
Eye Findings	440	(1)
Skin	440	(1)
Oral Manifestations	440	(1)
Differential Diagnosis	440	(1)
Juvenile Polyposis of the Colon	440	(1)
Turcot Syndrome	440	(1)
Peutz-Jeghers Syndrome	440	(1)
Cronkhite-Canada Syndrome	440	(1)
Muir-Torre Syndrome	440	(1)
Periforllicular Fibromas and Intestinal Polyposis (Birt-Hogg-Dube Syndrome, Hornstein-Knickenberg Syndrome)	440	(1)
Other Multiple Intestinal Syndromes	440	(1)
Diagnosis	441	(1)
Laboratory Aids	441	(3)
Gorlin (Nevoid Basal Cell Carcinoma) Syndrome	444	(9)
Craniofacial Features	445	(1)
Eyes	445	(1)
Skin	445	(3)
Odontogenic Keratocysts	448	(1)
Musculoskeletal and Radiographic Findings	449	(1)
Kidney Anomalies	449	(1)
Hypogonadism in Males	449	(1)
Medulloblastoma, Other Brain Tumors, and Seizures	449	(1)
Cardiac Fibroma	449	(1)
Mesenteric Cysts	449	(1)
Ovarian Fibromas and Fibrosarcomas	449	(1)
Fetal Rhabdomyoma	450	(1)
Miscellaneous Other Tumors	450	(1)
Chromosome Instability and Cellular Radiation Sensitivity	450	(1)
Differential Diagnosis	450	(1)
Laboratory Diagnosis	450	(3)
Klippel-Trenaunay Syndrome, Parkes Weber Syndrome, and Sturge-Weber Syndrome	453	(7)
Klippel-Trenaunay Syndrome	454	(1)
Etiologic Considerations	454	(1)
Capillary Malformations	454	(1)
Varicosities	454	(1)
Lymphatic Malformations	454	(1)
Limb Enlargement	455	(1)
Secondary Cutaneous Manifestations	455	(1)
Other	455	(1)
Parkes Weber Syndrome	455	(1)
Sturge-Weber Syndrome	456	(1)
Seizures and Cognitive Disability	457	(1)
Vascular Tumors and Vascular Malformations	457	(1)
Kasabach-Merritt Phenomenon	458	(1)
Diagnosis	458	(1)
Differential Diagnosis	458	(1)
Laboratory Aids	459	(1)
Maffucci Syndrome (Enchondromatosis and Vascular Malformations)	460	(2)
Skeletal System	460	(1)
Vascular Abnormalities	460	(1)
Neoplasms	460	(1)
Oral Manifestations	460	(1)
Differential Diagnosis	460	(1)
Laboratory Aids	460	(2)
Multiple Endocrine Neoplasia, Type 2B (Multiple Mucosal Neuroma Syndrome, MEN Type 3)	462	(6)
Facies	462	(1)
Ophthalmologic Manifestations	462	(1)
Otolaryngologic Manifestations	462	(1)
Thyroid Gland	462	(1)
Adrenal Gland	463	(1)
Gastrointestinal Tract	463	(1)
Musculoskeletal Alterations	463	(1)
Other Findings	463	(1)
Oral Manifestations	463	(1)
Differential Diagnosis	463	(1)
Laboratory Aids	464	(4)
Multiple Odontoma-Esophageal Stenosis Syndrome	468	(1)
The Neurofibromatoses (NF1 Recklinghausen Type, NF2 Acoustic Type, Other Types)	469	(7)
Types of Neurofibromatosis	469	(1)
Neurofibromatosis, Type 1 (NF1)	469	(1)
Neurofibromatosis, Type 2 (NF2)	469	(1)
Neurofibromatosis, Type 3, Riccardi Type	469	(1)
Neurofibromatosis, Type 3, Intestinal Type	469	(1)
Neurofibromatosis, Type 4	469	(1)
Neurofibromatosis, Type 5, Segmental Neurofibromatosis	469	(1)
Familial Spinal Neurofibromatosis	469	(1)
Duodenal Carcinoid Syndrome	469	(1)
Etiology	469	(1)
Phenotypic/Molecular Correlations	470	(1)
Unusual Aspects of Neurofibromatosis	470	(1)
Neurofibromatosis, Type 1	470	(1)
Natural History	470	(1)
Growth	470	(1)
Neoplasia	470	(1)
Skin	470	(1)
Central Nervous System	471	(1)
Eyes	471	(1)
Skeletal System	471	(1)
Endocrine System	471	(1)
Cardiovascular System	471	(1)
Oral Manifestations	471	(1)
Other Findings	472	(1)
Differential Diagnosis	472	(1)
Laboratory Aids	473	(3)
Peutz-Jeghers Syndrome	476	(4)
Gastrointestinal System	476	(1)
Skin	477	(1)
Ovarian Cysts and Tumors and Uterine Adenocarcinoma	477	(1)
Testicular Tumors	478	(1)
Other Neoplasms	478	(1)
Oral Manifestations	478	(1)
Differential Diagnosis	478	(1)
Laboratory Aids	478	(2)
Proteus Syndrome (and Encephalocraniocutaneous Lipomatosis)	480	(4)
Natural History	481	(1)
Facial Phenotype with Mental Deficiency	481	(1)
Connective Tissue Nevi	481	(1)
Epidermal Nevi and Other Skin Lesions	481	(1)
Vascular Malformations	481	(1)
Lipomas and Dysregulation of Adipose Tissue	481	(1)
Unusual Tumors	481	(1)
Skeletal Abnormalities	482	(1)
Spleen and Thymus	482	(1)
Central Nervous System	482	(1)
Pulmonary Abnormalities	482	(1)
Renal Abnormalities	482	(1)
Other Abnormalities	482	(1)
Differential Diagnosis	482	(2)
Schimmelpenning Syndrome (Formerly ``Epidermal Nevus Syndrome'')	484	(4)
Cutaneous Manifestations	485	(1)
Central Nervous System	485	(1)
Ocular Defects	485	(1)
Skeletal Abnormalities	485	(1)
Oral Manifestations	485	(1)
Other Findings	485	(1)
Differential Diagnosis	485	(3)
Tuberous Sclerosis	488	(6)
Skin	489	(1)
Performance and Central Nervous System	489	(1)
Skeletal System	489	(2)
Ocular Findings	491	(1)
Renal Abnormalities	491	(1)
Cardiac Manifestations	491	(1)
Other Findings	491	(1)
Oral Manifestations	491	(1)
Differential Diagnosis	491	(1)
Laboratory Aids	491	(3)
Syndromes Affecting the Skin and Mucosa	494	(160)
Aplasia Cutis Congenita	494	(4)
Differential Diagnosis	495	(1)
Laboratory Aids	495	(3)
Aplasia Cutis Congenita, Ear Malformations, Facial Paresis, and Dermal Sinuses (Scalp-Ear-Nipple Syndrome, Finlay-Marks Syndrome)	498	(1)
Aplasia Cutis Congenita with Epibulbar Dermoids (Oculo-Ectodermal Syndrome)	498	(1)
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	499	(1)
Vertebral and Eye Anomalies, Cutis Aplasia Congenita, and Short Stature (VECS)	500	(1)
Ascher Syndrome	500	(1)
Eyes	500	(1)
Lips	500	(1)
Thyroid	501	(1)
Differential Diagnosis	501	(1)
Acromegaloid Features and Thickened Oral Mucosa (Hughes Syndrome)	501	(1)
Cutis Laxa Syndromes	502	(6)
Autosomal Recessive Form	502	(1)
Facies and Skin	503	(1)
Cardiorespiratory	503	(1)
Musculoskeletal	503	(1)
Gastrointestinal	503	(1)
Genitourinary	503	(1)
Oral	503	(1)
Autosomal Dominant Form	504	(1)
X-Linked Form or Occipital Horn Syndrome (Formerly Ehlers-Danlos Syndrome Type IX)	504	(1)
Differential Diagnosis	505	(1)
Pathology	506	(1)
Laboratory Aids	506	(2)
Cutis Laxa, Craniosynostosis, Mental Retardation, Unusual Facies, Skeletal Anomalies, and Ambiguous Genitalia (SCARF Syndrome)	508	(1)
De Barsy Syndrome	509	(1)
Gerodermia Osteodysplastica (Bamatter Syndrome)	510	(1)
Facies	510	(1)
Skin	510	(1)
Musculoskeletal	511	(1)
Oral Manifestations	511	(1)
Differential Diagnosis	511	(1)
Wrinkly Skin Syndrome	511	(1)
Ehlers-Danlos Syndromes	512	(3)
Collagen Structure and Biosynthesis	512	(3)
Ehlers-Danlos Syndrome Type I (Severe Form, EDS I) and Type II (Mild Form, EDS II)	515	(3)
General Features	515	(1)
Skin	515	(1)
Musculoskeletal System	515	(1)
Cardiovascular Defects	516	(1)
Craniofacial Features	516	(2)
Ehlers-Danlos Syndrome Type III (Familial Hypermobility)	518	(1)
Ehlers-Danlos Syndrome Type IV (Ecchymotic, Arterial, or Sack-Barabas Type)	519	(2)
Heredity	519	(1)
Biochemical and Molecular Pathology	519	(1)
Skin	519	(1)
Vascular Complications	519	(1)
Other Problems	520	(1)
Prenatal Diagnosis	520	(1)
Ehlers-Danlos Syndrome Type V (X-Linked)	521	(1)
Ehlers-Danlos Syndrome VI (Ocular-Scoliotic Type)	521	(4)
Differential Diagnosis	522	(1)
Laboratory Findings	522	(3)
Ehlers-Danlos Syndrome Type VII (Autosomal Dominant (Arthrochalasia Type Congenita) (EDS VIIA and B) and Autosomal Recessive (Dermatosparaxis Type) (EDS VIIC)	525	(2)
Classification	525	(1)
Biochemical and Molecular Pathology	525	(1)
Differential Diagnosis	525	(2)
Ehlers-Danlos Syndrome Type VIII (Periodontal Type)	527	(1)
Ehlers-Danlos Syndrome Type X (Fibronectin Defect)	527	(1)
Other Types of Ehlers-Danlos Syndrome	528	(1)
Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome, Scoggins Type, Autosomal Recessive Type)	528	(4)
General Aspects	529	(1)
Skin and Its Appendages	529	(1)
Mucosal Manifestations	530	(1)
Eyes and Ears	530	(1)
Gastrointestinal Features	530	(1)
Hematologic Manifestations	530	(1)
Immunologic Manifestations	531	(1)
Neoplasia	531	(1)
Central Nervous System	531	(1)
Other Findings	531	(1)
Differential Diagnosis	531	(1)
Laboratory Findings	531	(1)
Dyskeratosis Benigna Intraepithelialis Mucosae et Cutis Hereditaria	532	(1)
Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome, Jackson-Lawler Syndrome)	532	(4)
Heredity and Molecular Genetics	533	(1)
Skin and Skin Appendages	533	(1)
Laryngologic and Esophageal Abnormalities	534	(1)
Oral Manifestations	534	(1)
Differential Diagnosis	534	(2)
Hereditary Benign Intraepithelial Dyskeratosis (Witkop-Von Sallmann Syndrome)	536	(1)
Eyes	536	(1)
Oral Manifestations	536	(1)
Differential Diagnosis	536	(1)
Laboratory Aids	536	(1)
Leukoplakia, Tylosis, and Esophageal Carcinoma (Clarke-Howel-Evans Syndrome)	537	(2)
Skin	537	(1)
Gastrointestinal Tract	537	(1)
Oral Manifestations	537	(1)
Differential Diagnosis	538	(1)
Mucoepithelial Dysplasia Syndrome (Witkop Syndrome)	539	(1)
Hypohidrotic Ectodermal Dysplasia	540	(5)
Facies	540	(1)
Skin and Skin Appendages	540	(1)
Eyes	541	(1)
Otolaryngologic Manifestations	541	(1)
Other Findings	541	(1)
Oral Manifestations	541	(1)
Differential Diagnosis	541	(1)
Laboratory Aids	542	(3)
Hypohidrotic Ectodermal Dysplasia and Central Nervous System Malformations	545	(1)
Hypohidrotic Ectodermal Dysplasia, Hypothyroidism, and Agenesis of Corpus Callosum	545	(1)
Hypohidrotic Ectodermal Dysplasia, Hypothyroidism, and Ciliary Dyskinesia (ANOTHER Syndrome)	545	(1)
Hypohidrotic Ectodermal Dysplasia, Unusual Facies, Cataracts, and Mental and Motor Retardation	545	(1)
Ectodermal Dysplasia and Cleft Lip/Palate (Margarita Island Syndrome)	546	(1)
``Pure'' Hair-Nail-type Ectodermal Dysplasias	546	(1)
Ectodermal Dysplasia and Cerebellar Ataxia	546	(1)
Ectodermal Dysplasia and Arthrogryposis	546	(1)
Ectodermal Dysplasia, Syndactyly, and Mental Retardation	547	(1)
Ectodermal Dysplasia, Lipoatrophic Diabetes, and Acrorenal Field Defect (AREDYLD Syndrome)	547	(1)
Hidrotic Ectodermal Dysplasia (Clouston Syndrome)	547	(2)
CHILD Syndrome	549	(1)
Skin	549	(1)
Nails	549	(1)
Extremities	549	(1)
Other Findings	550	(1)
Diagnosis	550	(1)
Hair-Nail-Skin-Teeth Dysplasias (Dermo-Odonto-Dysplasia, Pilo-Dento-Ungular Dysplasia, Odonto-Onycho-Dermal Dysplasia, Odonto-Onychial Dysplasia, Tricho-Dermo-Dysplasia with Dental Alternations)	550	(1)
Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)	551	(4)
Skin	551	(2)
Eyes	553	(1)
Central Nervous System	553	(1)
Oral Manifestations	553	(1)
Other Abnormalities	553	(1)
Differential Diagnosis	553	(1)
Laboratory Aids	553	(2)
Naegeli Syndrome	555	(1)
LEOPARD Syndrome (Multiple Lentigines Syndrome, Progressive Cardiomyopathic Lentiginosis)	555	(3)
Facies	555	(1)
Skin	555	(1)
Cardiovascular System	556	(1)
Genitourinary System	556	(1)
Skeletal System	556	(1)
Central Nervous System	556	(1)
Oral Manifestations	556	(1)
Differential Diagnosis	556	(1)
Laboratory Aids	557	(1)
Macular Cutaneous and Mucosal Pigmentation, Myxomas, and Endocrine Neoplasia Syndrome (Carney Syndrome, NAME Syndrome, LAMB Syndrome)	558	(3)
Skin	558	(1)
Cardiac Myxomas	558	(1)
Eyes	559	(1)
Genitourinary Tract	559	(1)
Endocrine Abnormalities	559	(1)
Schwannomas	560	(1)
Myxoid Mammary Fibroadenoma and Ductal Adenoma	560	(1)
Oral Manifestations	560	(1)
Differential Diagnosis	560	(1)
Laboratory Aids	560	(1)
Waardenburg Syndrome	561	(5)
Facies	562	(1)
Eyes	562	(2)
Hair and Skin	564	(1)
Ears and Nose	564	(1)
Gastrointestinal System	564	(1)
Skeletal System	564	(1)
Genitourinary System	564	(1)
Oral Manifestations	564	(1)
Differential Diagnosis	564	(1)
Laboratory Aids	565	(1)
Albinism, Black Locks, Neural Crest Cellular Malmigration, and Sensorineural Deafness (ABCD) Syndrome	566	(1)
Ataxia-Telangiectasia (Louis-Bar Syndrome)	566	(5)
Genetics	568	(1)
Facies and Appearance	568	(1)
Central Nervous System	568	(1)
Eyes	568	(1)
Skin	569	(1)
Respiratory System	569	(1)
Neoplasia	569	(1)
Sexual Maturation	569	(1)
Oral Manifestations	569	(1)
Differential Diagnosis	569	(1)
Laboratory Aids	569	(2)
Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome)	571	(5)
Facies	571	(1)
Skin and Skin Appendages	571	(1)
Eyes	572	(1)
Central Nervous System	572	(1)
Musculoskeletal System	572	(1)
Genitourinary System	572	(1)
Miscellaneous Findings	572	(1)
Oral Manifestations	573	(1)
Differential Diagnosis	573	(1)
Laboratory Aids	573	(3)
Hereditary Hemorrhagic Telangiectasia (Osler-Rendu-Weber Syndrome)	576	(4)
Skin	576	(1)
Nasal Mucosa	576	(1)
Other Mucous Membranes	576	(1)
Lungs	576	(1)
Brain	577	(1)
Other Findings	577	(1)
Oral Manifestations	577	(1)
Pathology	577	(1)
Differential Diagnosis	577	(1)
Laboratory Aids	578	(2)
Acrolabial Telangiectasia	580	(1)
Pseudoxanthoma Elasticum	580	(4)
Skin	581	(1)
Eyes	581	(1)
Cardiovascular System	581	(1)
Oral Manifestations	581	(1)
Other Findings	581	(1)
Differential Diagnosis	582	(1)
Laboratory Aids	582	(2)
Progeria (Hutchinson-Gilford Syndrome)	584	(2)
Growth	584	(1)
Performance	584	(1)
Craniofacial Appearance	584	(1)
Musculoskeletal System	584	(1)
Cardiovascular System	585	(1)
Skin and Skin Appendages	585	(1)
Differential Diagnosis	585	(1)
Laboratory Aids	585	(1)
Werner Syndrome	586	(4)
Facies	587	(1)
Skin	587	(1)
Eyes	587	(1)
Hair	588	(1)
Musculoskeletal System	588	(1)
Cardiovascular System	588	(1)
Endocrine System	588	(1)
Central Nervous System	588	(1)
Oral Manifestations	588	(1)
Neoplasia	588	(1)
Differential Diagnosis	588	(1)
Laboratory Aids	588	(2)
Mulvihill-Smith Syndrome (Premature Aging, Microcephaly, Unusual Facies, Multiply Nevi, and Mental Retardation)	590	(1)
Wiedemann-Reutenstrauch Syndrome	590	(3)
Rothmund-Thomson Syndrome	593	(3)
Craniofacial Features	593	(1)
Skin and Skin Appendages	593	(1)
Central Nervous System	593	(1)
Endocrine System	593	(1)
Musculoskeletal System	593	(1)
Eyes	593	(1)
Neoplasia	593	(1)
Other Findings	594	(1)
Oral Manifestations	594	(1)
Differential Diagnosis	594	(1)
Laboratory Aids	595	(1)
Cockayne Syndrome	596	(4)
Facies	597	(1)
Eyes	597	(1)
Skin	597	(1)
Musculoskeletal Alterations	598	(1)
Nervous System	598	(1)
Other Findings	598	(1)
Oral Manifestations	598	(1)
Differential Diagnosis	598	(1)
Laboratory Aids	599	(1)
Xeroderma Pigmentosum	600	(6)
Face and Skin	603	(1)
Eyes	603	(1)
Central Nervous System	603	(1)
Oral Manifestations	604	(1)
Other Findings	604	(1)
Histologic Features	604	(1)
Differential Diagnosis	604	(1)
Laboratory Aids	604	(2)
Endocrine-Candidosis Syndrome (Candidosis, Idiopathic Hypoparathyroidism, and Hypoadrenalcorticism)	606	(3)
Heredity	606	(1)
Endocrine Systems	606	(1)
Skin and Skin Appendages	607	(1)
Central and Peripheral Nervous System	607	(1)
Ocular Findings	607	(1)
Gastrointestinal Findings	607	(1)
Blood Findings	608	(1)
Oral Manifestations	608	(1)
Differential Diagnosis	608	(1)
Laboratory Aids	608	(1)
Epidermolysis Bullosa	609	(11)
EB Simple Koebner Type	612	(1)
Systemic Manifestations	612	(1)
Oral Manifestations	613	(1)
Inheritance and Genetics	613	(1)
EB Simplex with Muscular Dystrophy (MD-EBS)	613	(1)
Inheritance and Genetics	613	(1)
EB Atrophicans Generalisata Gravis (Herlitz Type)	613	(1)
Systemic Manifestations	613	(1)
Oral Manifestations	613	(1)
Inheritance and Genetics	614	(1)
Dominant Dystrophic (Hypertrophic) form (Cockayne-Touraine Type)	614	(1)
Oral Manifestations	614	(1)
Inheritance and Genetics	615	(1)
Scarring EB with Dermolytic Blisters (Hallopeau-Siemens Type)	615	(1)
Oral Manifestations	616	(1)
Inheritance and Genetics	616	(1)
Oral Manifestations of Other Forms of EB	616	(1)
Differential Diagnosis	616	(1)
Laboratory Aids	617	(3)
Hyalinosis Cutis et Mucosae (Lipoid Proteinosis, Urbach-Wiethe Syndrome)	620	(4)
Skin and Skin Appendages	620	(1)
Ophthalmologic Abnormalities	620	(1)
Central Nervous System	621	(1)
Larynx and Other Mucosal Involvement	621	(1)
Oral Manifestations	621	(1)
Differential Diagnosis	621	(1)
Laboratory Aids	621	(3)
Restrictive Dermopathy (Late Fetal Epidermal Dysplasia, Type II)	624	(2)
Setleis Syndrome	626	(1)
Craniofacial Features	626	(1)
Other Findings	626	(1)
Differential Diagnosis	626	(1)
Goeminne Syndrome	627	(1)
Tongue Atrophy, Linear Skin Atrophy, Scarring Alopecia, and Anonychia	627	(1)
Keratitis-Ichthyosis-Deafness Syndrome (KID Syndrome)	627	(3)
Skin	628	(1)
Ears	628	(1)
Eyes	628	(1)
Nervous System	628	(1)
Oral Manifestations	628	(1)
Inheritance and Genetics	628	(1)
Differential Diagnosis	628	(1)
Laboratory Findings	628	(2)
Acrodermatitis Enteropathica	630	(1)
Atrichia, Somatic and Mental Retardation, and Skeletal Anomalies	631	(1)
Barraquer-Simons Partial Lipodystrophy Syndrome	631	(3)
Bazex-Dupre-Christol Syndrome	634	(1)
Costello Syndrome	634	(4)
Facies	635	(1)
Skin and Appendages	635	(1)
Intelligence	635	(1)
Musculoskeletal	635	(1)
Cardiovascular	636	(1)
Urogenital	636	(1)
Miscellaneous	636	(1)
Laboratory Findings	636	(1)
Differential Diagnosis	636	(2)
Macrocephaly, Cutis Marmorata Telangiectatica Congenita, and Syndactyly (Van Lohuizen Syndrome)	638	(2)
Craniofacial Anomalies	638	(1)
Eyes	638	(1)
Skin	638	(1)
Extremities	638	(1)
Central Nervous System	638	(1)
Other Findings	639	(1)
Diagnosis	639	(1)
Cutis Verticis Gyrata	640	(1)
Facial Hemangiomas, Sternal Nonunion, Supraumbilical Midline Raphe, Vascular Anomalies, and Dandy-Walker Malformation (PHACES)	641	(2)
Sternal Non-Union	641	(1)
Supraumbilical Raphe	642	(1)
Hemangiomas	642	(1)
Vascular Anomalies	642	(1)
Dandy-Walker Malformation	642	(1)
Diagnosis	642	(1)
Hyperkeratosis Palmoplantaris Striata, Pili Torti, Hypohidrosis, Oligodontia, and Sensorineural Hearing Loss	643	(1)
Palmoplantar Hypokeratosis, Hypotrichosis, Hypodontia, Enamel and Dentin Dysplasia, Cleft Palate, Strabismus, and Cryptorchidism	643	(1)
Congenital Hypertrichosis Universalis (Ambras Syndrome)	643	(1)
Congenital Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis	644	(1)
Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome	645	(1)
Johnson-McMillian Syndrome	645	(1)
Laryngo-Onycho-Cutaneous Syndrome (LOGIC Syndrome)	645	(1)
Kindler and Weary Syndromes	646	(1)
Skin	646	(1)
Oral Manifestations	646	(1)
Other Mucosal Involvement	646	(1)
Diagnosis	647	(1)
Infantile Systemic Hyalinosis	647	(1)
Linear Skin Defects and Microphthalmia (MIDAS Syndrome)	648	(2)
Skin	649	(1)
Eyes	649	(1)
Ears	649	(1)
Central Nervous System	649	(1)
Heart	649	(1)
Genital Anomalies	649	(1)
Miscellaneous Findings	649	(1)
Diagnosis	649	(1)
Melanoleukoderma, Hypodontia, Hypotrichosis, Somatic and Mental Retardation, and Infantilism	650	(1)
Trichothiodystrophy (Tay Syndrome, IBIDS Syndrome)	650	(3)
Anomalies of the Hair	651	(1)
Heredity	651	(1)
Differential Diagnosis	652	(1)
Laboratory Aids	652	(1)
CHIME Neuroectodermal Dysplasia Syndrome	653	(1)
Syndromes with Craniosynostosis: General Aspects and Well-Known Syndromes	654	(17)
Apert Syndrome (Acrocephalosyndactyly)	654	(4)
Craniofacial Features	654	(1)
Growth	655	(1)
Central Nervous System	655	(1)
Hands and Feet	656	(1)
Skin	656	(1)
Other Findings	657	(1)
Differential Diagnosis	657	(1)
Prenatal Diagnosis	657	(1)
Crouzon Syndrome (Craniofacial Dysostosis)	658	(1)
Craniofacial Features	658	(1)
Central Nervous System	658	(1)
Other Findings	659	(1)
Differential Diagnosis	659	(1)
Pfeiffer Syndrome	659	(3)
Clinical Subtypes	660	(1)
Craniofacial Features	660	(1)
Central Nervous System	661	(1)
Hands and Feet	661	(1)
Other Findings	661	(1)
Differential Diagnosis	661	(1)
FGFR 3-Associated Coronal Synostosis Syndrome (Muenke Craniosynostosis)	662	(2)
Genetics	662	(1)
Craniofacial Features	662	(1)
Performance	663	(1)
Other Clinical Findings	663	(1)
Radiographic Findings	663	(1)
Diagnosis	663	(1)
Prenatal Diagnosis	663	(1)
Saethre-Chotzen Syndrome	664	(2)
Craniofacial Features	664	(1)
Performance	664	(1)
Hands and Feet	664	(1)
Other Findings	665	(1)
Differential Diagnosis	665	(1)
Laboratory Aids	665	(1)
Carpenter Syndrome (Acrocephalopolysyndactyly)	666	(2)
Craniofacial Features	666	(1)
Performance and Central Nervous System	667	(1)
Hands and Feet	667	(1)
Cardiovascular Anomalies	667	(1)
Other Abnormalities	667	(1)
Differential Diagnosis	667	(1)
Cloverleaf Skull (Kleeblattschadel)	668	(3)
Syndromes with Craniosynostosis: Miscellaneous Syndromes	671	(33)
Acrocephalospondylosyndactyly	671	(1)
Acrocraniofacial Dysostosis	671	(1)
Antley-Bixler Syndrome	671	(1)
Differential Diagnosis	672	(1)
Armendares Syndrome	672	(2)
Baller-Gerold Syndrome	674	(1)
Beare-Stevenson Cutis Gyrata Syndrome	674	(1)
Berant Syndrome	674	(1)
CAP Syndrome	674	(1)
Calabro Syndrome	675	(1)
Calvarial Hyperostosis	675	(1)
Chitayat Hypophosphatemia Syndrome	675	(1)
Christian Syndrome	676	(1)
COH Syndrome	676	(1)
Cranioectodermal Dysplasia (Sensenbrenner Syndrome)	677	(1)
Craniofacial Dyssynostosis	677	(1)
Craniofrontonasal Syndrome	678	(1)
Craniomicromelic Syndrome	679	(1)
Craniorhiny	680	(1)
Craniosynostosis, Boston Type	680	(1)
Craniosynostosis/Ectopia Lentis	680	(1)
Craniosynostosis, Philadelphia Type	681	(1)
Craniotelencephalic Dysplasia	681	(1)
Crouzonodermoskeletal Syndrome	681	(1)
Curry-Jones Syndrome	682	(1)
Elejalde Syndrome	682	(1)
Fontaine-Farriaux Syndrome	682	(1)
Frydman Trigonocephaly Syndrome	682	(1)
Fryns Craniosynostosis Syndrome	682	(1)
Gomez-Lopez-Hernandez Syndrome (Cerebello-Trigeminal-Dermal Dysplasia)	683	(1)
Gorlin-Chaudhry-Moss Syndrome	684	(1)
Hall Syndrome	685	(1)
Herrmann Syndrome	685	(1)
Hersh Syndrome	686	(1)
Holoprosencephaly/ Craniosynostosis Syndrome (Genoa Syndrome)	686	(1)
Hunter-McAlpine Syndrome	686	(1)
Hypomandibular Faciocranial Syndrome	687	(1)
Ives-Houston Syndrome	688	(1)
Jackson-Weiss Syndrome	688	(2)
Jones Craniosynostosis/Dandy- Walker Syndrome	690	(1)
Kozlowski Craniosynostosis Syndrome	690	(1)
Lampert Syndrome	691	(1)
Lin-Getting Syndrome	691	(1)
Lowry Syndrome	691	(1)
Lowry-MacLean Syndrome	691	(1)
Meier-Gorlin (Ear-Patella-Short Stature) Syndrome	691	(2)
Osteocraniostenosis	693	(1)
Pfeiffer Type Cardiocranial Syndrome	693	(1)
Pfeiffer Type Dolichocephalosyndactyly	693	(1)
Richieri-Costa Overgrowth Syndrome	693	(1)
Sagittal Synostosis/Auricular Anomalies Syndrome (Idaho Syndrome II)	693	(1)
Sakati Syndrome	694	(1)
Salinas Syndrome	694	(1)
San Francisco Syndrome	695	(1)
Say-Barber Syndrome	695	(1)
Say-Meyer Trigonocephaly Syndrome	695	(1)
Say-Poznanski Syndrome	695	(1)
SCARF Syndrome	695	(1)
Shprintzen-Goldberg Syndrome	696	(2)
Spear-Mickle Syndrome	698	(1)
Spondyloepiphyseal Dysplasia/Craniosynostosis Syndrome	698	(1)
Ventruto Syndrome	698	(1)
Wisconsin Syndrome	698	(6)
Syndromes of Abnormal Craniofacial Contour	704	(20)
Anencephaly	704	(3)
Craniofacial Features	704	(1)
Associated Anomalies	705	(1)
Differential Diagnosis	705	(1)
Diagnosis and Laboratory Aids	706	(1)
Encephaloceles	707	(5)
Chromosomal Syndromes	708	(1)
Monogenic Syndromes	709	(1)
Teratogenic Causes	709	(1)
Disruptive Causes	709	(1)
Frontonasal Malformation	709	(1)
Von Voss-Cherstvoy Syndrome	709	(1)
Encephalocele/Absent Corpus Callosum Association	710	(1)
Encephalocele/Clefting Association	710	(1)
Encephalocele/Craniosynostosis Association	710	(1)
Encephalocele with Dandy-Walker and Arnold-Chiari Malformations	710	(1)
Encephalocele/Ectrodactyly Association	710	(1)
Encephalocele/Hypothalamic-Pituitary Dysfunction Association	710	(1)
Encephalocele/ Klippel-Feil/ Iniencephaly Association	710	(1)
Encephalocele/Myelomeningocele Association	710	(1)
Encephalocele/Oculo-Auriculo-Vertebral Spectrum	710	(1)
Miscellaneous and/or Occasional Involvement	710	(2)
The Holoprosencephalic Disorders	712	(5)
Epidemiology	712	(1)
Molecular Studies	713	(1)
Chromosome Abnormalities	713	(1)
Diagnosis and Recurrence Risk	713	(1)
Central Nervous System	713	(2)
Face	715	(1)
Differential Diagnosis	715	(1)
Laboratory Aids	716	(1)
Otocephaly (Agnathia)	717	(2)
Craniofacial Features	718	(1)
Other Abnormalities	718	(1)
Differential Diagnosis	718	(1)
Nasal Aplasia (Arhinia), Heminasal Aplasia with or without Proboscis, and Their Associations	719	(3)
Aprosencephaly	722	(2)
Syndromes Affecting the Central Nervous System	724	(41)
Myotonic Dystrophy (Steinert Syndrome)	724	(4)
Facies	724	(1)
Eyes	724	(1)
Auditory System	724	(1)
Hair and Skin	724	(1)
Central Nervous System	724	(1)
Cardiovascular System	725	(1)
Respiratory System	725	(1)
Gastrointestinal System	725	(1)
Musculoskeletal System	725	(1)
Endocrine System	726	(1)
Oral Manifestations	726	(1)
Differential Diagnosis	726	(1)
Laboratory Aids	726	(2)
Isolated Lissencephaly Sequence (Classical Lissencephaly)	728	(1)
Craniofacial Features	728	(1)
Central Nervous System	728	(1)
Other Anomalies	729	(1)
Clinical Course	729	(1)
Differential Diagnosis	729	(1)
Laboratory Aids	729	(1)
Miller-Dieker Syndrome	729	(2)
Genetics	729	(1)
Craniofacial Features	730	(1)
Central Nervous System	730	(1)
Other Anomalies	730	(1)
Differential Diagnosis	731	(1)
Laboratory Aids	731	(1)
Walker-Warburg Syndrome (HARD±E Syndrome, Warburg Syndrome, Cobblestone Lissencephaly)	731	(2)
Craniofacial Features	731	(1)
Central Nervous System	731	(1)
Eyes	731	(1)
Neuromuscular System	732	(1)
Other Findings	732	(1)
Differential Diagnosis	732	(1)
Laboratory Aids	732	(1)
Familial Dysautonomia (Riley-Day Syndrome, Hereditary Sensory and Autonomic Neuropathy Type III)	733	(3)
Facies	733	(1)
Nervous System	733	(1)
Skin	734	(1)
Eyes	734	(1)
Oral Manifestations	734	(1)
Differential Diagnosis	734	(1)
Laboratory Aids	734	(2)
Lesch-Nyhan Syndrome (Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) Deficiency)	736	(2)
Genetics and Biochemistry	736	(1)
Pathogenesis	736	(1)
Growth	736	(1)
Neurological Features	736	(1)
Hyperuricemia and Gout	737	(1)
Other Features	737	(1)
Differential Diagnosis	737	(1)
Laboratory Aids	737	(1)
Hereditary Sensory Syndromes with Oral Mutilation	738	(3)
Facies and General Apperarance	739	(1)
Anhidrosis	739	(1)
Musculoskeletal System	739	(1)
Nervous System	739	(1)
Oral Manifestations	740	(1)
Differential Diagnosis	740	(1)
Laboratory Aids	740	(1)
Cranial Nerve Syndromes Involving III, IV, V, VI	741	(3)
Anatomical Guidelines	741	(1)
Orbital Apex (Rollet) Syndrome	741	(1)
Superior Orbital Fissure (Rochon-Duvigneau) Syndrome	741	(1)
Petrosphenoidal Space (Jacod) Syndrome	741	(1)
Cavernous Sinus (Foix) Syndrome	742	(1)
Apex of the Petrous Bone (Gradenigo) Syndrome	742	(1)
Other Syndromes Involving Eye Movements	742	(1)
Duane Syndrome	742	(1)
Fisher Variant of Landry-Guillain-Barre Syndrome	742	(1)
Tolosa-Hunt Syndrome	742	(1)
Syndromes of V	742	(1)
Other Syndromes Involving the Vth Cranial Nerve During Its Peripheral Course	742	(1)
Reader (Paratrigeminal) Syndrome	742	(1)
Pterygopalatine Fossa (Behr) Syndrome	742	(1)
Trotter Syndrome	742	(1)
Godtfredsen (Cavernous Sinus-Nasopharyngeal Tumor) Syndrome	742	(1)
Syndromes of Cranial Nerves Involving the Midbrain and Pons	742	(2)
Marcus Gunn Phenomenon (Jaw-Winking and Winking-Jaw Syndromes (Marcus Gunn and Inverse Marcus Gunn Syndromes), Marin Amat Phenomenon)	744	(1)
Some Disorders of Facial Pain	745	(5)
Trigeminal Neuralgia (Tic Douloureux)	745	(1)
Glossopharyngeal Neuralgia	746	(1)
Post-Zoster Neuralgia (Geniculate Ganglion Syndrome, Ramsay Hunt Syndrome, Cephalic Zoster Syndrome)	747	(1)
Still Other Facial Pains	748	(1)
Cluster Headaches (Horton's Headache)	748	(1)
Atypical Facial Pain	748	(1)
Organic Facial Pain	748	(1)
Dental Disease	748	(1)
Neurities	748	(1)
Indeterminate Facial Pain	748	(1)
Angina Pectoris	748	(1)
Trigeminal Neuropathy	749	(1)
Nasopharyngeal and Cranial Lesions Causing Facial Pain	749	(1)
Dental Pain	749	(1)
Symptomatic Elongated Styloid Process (Eagle Syndrome)	749	(1)
Glossodynia (Glossopyrosis, Burning Tongue, Oral-Lingual Paresthesia)	750	(1)
Oromandibular Dystonia with Blepharospasm (Meige Syndrome, Brueghel Syndrome)	750	(1)
Syndromes Involving the VIIth Nerve	751	(3)
Melkersson-Rosenthal Syndrome	751	(1)
Asymmetric Crying Facies (Cardiofacial Syndrome)	752	(2)
Autosomal Dominant Geniospasm (Chin Quivering)	754	(1)
Gustatory Lacrimation (Paroxysmal Lacrimation, Crocodile Tears Syndrome, Bogorad Syndrome, and Gustolacrimal Reflex)	754	(2)
Gustatory Sweating and Flushing-Auriculotemporal and Chorda Tympani Syndromes (Frey Syndrome)	756	(1)
Gustatory Rhinorrhea	757	(1)
Angelman Syndrome	758	(2)
Facies	758	(1)
Skeletal Changes	758	(1)
Eyes	758	(1)
Central Nervous System	758	(1)
Laboratory Aids	758	(1)
Diagnosis	759	(1)
Syndromes of Lower Cranial Nerves and Medulla	760	(2)
Avellis Syndrome	760	(1)
Schmidt Syndrome	761	(1)
Jackson-Mackenzie Syndrome	761	(1)
Wallenberg Syndrome	761	(1)
Dejerine Syndrome	761	(1)
Cestan-Chenais Syndrome	761	(1)
Vernet (Jugular Foramen) Syndrome	761	(1)
Villaret (Retroparotid Space) Syndrome	761	(1)
Collet-Sicard Syndrome	761	(1)
Tapia (Vagohypoglossal) Syndrome	761	(1)
Garcin (Half-Base) Syndrome	761	(1)
Progressive Bulbar Palsy	762	(1)
Duchenne Syndrome (Progressive Bulbar Palsy, Glossopharyngolabial Paralysis)	762	(1)
Fasio-Londe Syndrome	762	(1)
Horner Syndrome	762	(1)
X-Linked Mental and Somatic Retardation, Genital Hypoplasia, and Sensorineural Hearing Loss (Juberg-Marsidi Syndrome)	762	(1)
Clinical Findings	762	(1)
Craniofacial Findings	763	(1)
Ocular System	763	(1)
Central Nervous System	763	(1)
Musculoskeletal System	763	(1)
Genitourinary System	763	(1)
Auditory Findings	763	(1)
Laboratory Findings	763	(1)
Diagnosis	763	(1)
Bobble-Head Doll Syndrome	763	(1)
Unilateral Hypoglossal Palsy	764	(1)
Neck-Tongue Syndrome	764	(1)
Syndromes with Contractures	765	(25)
Fetal Akinesia Deformation Sequence (Pena-Shokeir I Syndrome, FADS)	765	(2)
Facies	765	(1)
Musculoskeletal System	765	(1)
Genitourinary Abnormalities	765	(1)
Cardiac Anomalies	765	(1)
Oral Manifestations	765	(1)
Pathology	765	(1)
Differential Diagnosis	766	(1)
Laboratory Aids	767	(1)
Cerebro-Oculo-Facial-Skeletal Syndrome (Pena-Shokeir II Syndrome, COFS)	767	(2)
Facies	767	(1)
Musculoskeletal	767	(1)
Central Nervous System	768	(1)
Other Findings	768	(1)
Differential Diagnosis	768	(1)
Laboratory Aids	768	(1)
Neu-Laxova Syndrome	769	(2)
Facies	769	(1)
Musculoskeletal Alterations	769	(1)
Central Nervous System	769	(1)
Urogenital	769	(1)
Skin	769	(1)
Cardiac Anomalies	769	(1)
Oral Manifestations	769	(1)
Differential Diagnosis	769	(1)
Laboratory Aids	770	(1)
Multiple Pterygium Syndrome	771	(2)
Facies	771	(1)
Musculoskeletal Alterations	771	(1)
Muscellaneous Findings	771	(1)
Oral Manifestations	772	(1)
Differential Diagnosis	772	(1)
More Lethal Multiple Pterygium Phenotypes	773	(2)
Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)	775	(3)
Facies	775	(1)
Cutaneous and Musculoskeletal Anomalies	775	(1)
Genitourinary System	775	(1)
Oral Manifestations	775	(1)
Differential Diagnosis	775	(1)
Laboratory Aids	775	(3)
Bartsocas-Papas Syndrome	778	(1)
Craniofacies	778	(1)
Extremities	778	(1)
Genitourinary Findings	778	(1)
Miscellaneous Findings	778	(1)
Diagnosis	778	(1)
Chondrodystrophic Myotonia (Schwartz-Jampel Syndrome, Osteochondromuscular Dystrophy)	779	(3)
Facies	780	(1)
Eyes	780	(1)
Musculoskeletal Alterations	780	(1)
Other Findings	780	(1)
Oral Manifestations	780	(1)
Differential Diagnosis	780	(1)
Laboratory Aids	781	(1)
Marden-Walker Syndrome	782	(1)
Facies	782	(1)
Central Nervous System	782	(1)
Musculoskeletal	782	(1)
Heart Anomalies	782	(1)
Renal Anomalies	782	(1)
Oral Manifestations	782	(1)
Differential Diagnosis	782	(1)
Laboratory Aids	783	(1)
Marden-Walker-Like Syndrome without Psychomotor Retardation	783	(1)
Craniocarpotarsal Dysplasia (Whistling Face Syndrome, Freeman-Sheldon Syndrome, Windmill Vane Hand Syndrome)	783	(3)
Facies	783	(1)
Eyes	783	(1)
Nose	784	(1)
Musculoskeletal System	784	(1)
Other Findings	784	(1)
Oral Manifestations	784	(1)
Differential Diagnosis	784	(1)
Laboratory Aids	784	(2)
Trismus-Pseudocampylodactyly Syndrome (Hecht-Beals Syndrome)	786	(2)
Facies	786	(1)
Musculoskeletal Alterations	786	(1)
Oral Manifestations	787	(1)
Differential Diagnosis	787	(1)
Laboratory Aids	788	(1)
Unusual Facies, Camptodactyly with Fibrous Tissue Hyperplasia, Knuckle Pads, and Skeletal Dysplasia	788	(2)
Branchial Arch and Oral-Acral Disorders	790	(60)
Oculo-Auriculo-Vertebral Spectrum (Hemifacial Microsomia, Goldenhar Syndrome)	790	(8)
Facies	792	(1)
Eye	792	(2)
Ear	794	(1)
Central Nervous System	794	(1)
Trachea and Lung	794	(1)
Heart	794	(1)
Skeletal Alterations	794	(1)
Kidney	794	(1)
Gastrointestinal Anomalies	794	(1)
Oral Manifestations	794	(1)
Differential Diagnosis	795	(1)
Laboratory Aids	795	(3)
Oculoauriculofrontonasal Spectrum (Ophthalmofrontonasal Dysplasia, Golabi-Gonzales-Edwards Syndrome)	798	(1)
Central Nervous System	798	(1)
Heart	798	(1)
Skeletal Anomalies	798	(1)
Diagnosis	798	(1)
Mandibulofacial Dysostosis (Treacher Collins Syndrome, Franceschetti-Zwahlen-Klein Syndrome)	799	(3)
Facies	799	(1)
Skull	799	(1)
Eyes	799	(1)
Ears	800	(1)
Nose	800	(1)
Mental Status	800	(1)
Oral Findings	800	(1)
Differential Diagnosis	800	(1)
Laboratory Aids	800	(2)
Autosomal Dominant Mandibulofacial Dysostosis (Bauru Type)	802	(1)
Acrofacial Dysostosis, Type Nager (Preaxial Acrofacial Dysostosis)	802	(3)
Craniofacial Findings	803	(1)
Musculoskeletal System	803	(1)
Cardiovascular System	803	(1)
Genitourinary System	803	(1)
Central Nervous System	803	(1)
Miscellaneous Findings	804	(1)
Diagnosis	804	(1)
Prenatal Diagnosis	804	(1)
Postaxial Acrofacial Dysostosis, Cupped Ears, and Conductive Hearing Loss (Miller Syndrome, Genee-Wiedemann Syndrome)	805	(2)
Craniofacial Findings	806	(1)
Musculoskeletal System	806	(1)
Other Findings	806	(1)
Diagnosis	806	(1)
Acrofacial Dysostosis, Type Arens or Tel Aviv	807	(1)
Acrofacial Dysostosis, Type Catania	807	(1)
Acrofacial Dysostosis, Type Palagonia	807	(1)
Acrofacial Dysostosis, Type Reynolds	807	(2)
Acrofacial Dysostosis, Type Rodriguez	809	(1)
Maxillofacial Dysostosis, Autosomal Dominant	809	(1)
Maxillofacial Dysostosis, X-Linked (Toriello Syndrome)	809	(1)
Branchio-Oto-Renal Syndrome (BOR Syndrome)	810	(3)
Craniofacial Findings	810	(1)
Ears	810	(1)
Branchial Cysts/Fistulas	811	(1)
Genitourinary System	811	(1)
Diagnosis	811	(2)
Wildervanck Syndrome (Cervico-Oculo-Acoustic Syndrome, Klippel-Feil Anomaly Plus)	813	(1)
Facial and Ocular Findings	813	(1)
Auditory System	813	(1)
Musculoskeletal System	813	(1)
Central Nervous System	813	(1)
Diagnosis	813	(1)
Townes-Brocks Syndrome (Lop Ears, Imperforate Anus, Triphalangeal Thumbs, and Sensorineural Hearing Loss, REAR Syndrome)	814	(3)
Ears	814	(2)
Gastrointestinal System	816	(1)
Musculoskeletal System	816	(1)
Genitourinary System	816	(1)
Cardiovascular System	816	(1)
Central Nervous System	816	(1)
Diagnosis	816	(1)
Laboratory Aids	816	(1)
Oral-Acral Syndrome, Type Verloes-Koulischer	817	(1)
Meier-Gorlin (Ear-Patella-Short Stature) Syndrome	817	(1)
Carnevale Syndrome	818	(1)
Hypertelorism-Microtia-Clefting Syndrome (Bixler Syndrome, HMC Syndrome)	819	(1)
Digeorge Anomaly	820	(2)
Etiology	820	(1)
Clinical History	821	(1)
Parathyroids	821	(1)
Thymus	821	(1)
Cardiovascular Anomalies	821	(1)
Craniofacial Anomalies	821	(1)
Other Abnormalities	821	(1)
Diagnosis and Differential Diagnosis	821	(1)
Oromandibular-Limb Hypogenesis Syndromes	822	(10)
General Aspects	822	(1)
Nosology	822	(1)
Etiology	823	(1)
Pathogenesis	824	(1)
Differential Diagnosis	824	(1)
Recurrence Risk	824	(2)
Moebius Syndrome	826	(2)
Hypoglossia-Hypodactylia Syndrome	828	(1)
Hanhart Syndrome	829	(1)
Glossopalatine Ankylosis Syndrome	830	(1)
Charlie M. Syndrome	830	(1)
Limb Deficiency-Splenogonadal Fusion Syndrome	830	(2)
Oral-Facial-Digital Syndromes	832	(12)
OFD Type I (Papillon-Leage/Psaume Syndrome)	832	(1)
Facies	832	(1)
Skin and Skin Appendages	833	(1)
Skeletal Manifestations	833	(1)
Central Nervous System	833	(1)
Urinary System	833	(1)
Oral Manifestations	833	(1)
Differential Diagnosis	834	(1)
Laboratory Aids	834	(2)
OFD Type II (Mohr Syndrome)	836	(1)
Facies	836	(1)
Skeletal Alterations	836	(1)
Central Nervous System	836	(1)
Other Findings	836	(1)
Oral Manifestations	836	(2)
Differential Diagnosis	838	(1)
Laboratory Aids	838	(1)
OFD Type III [See-Saw Winking with Oral-Facial-Digital Anomalies and Postaxial Polydactyly of the Hands and F (Sugarman Syndrome) ]	838	(1)
OFD Type IV (Oral-Facial-Digital Syndrome with Tibial Dysplasia, Baraitser-Burn Type)	838	(2)
OFD Type V [Median Cleft of Upper Lip and Postaxial Polydactyly of Hands and Feet (Thurston Syndrome) ]	840	(1)
OFD Type VI [Polydactyly, Cleft Lip/Palate, Lingual Lump and Cerebellar Anomalies (Varadi Syndrome) ]	840	(2)
OFD Type VII [Facial Asymmetry, Pseudo Cleft Lip, Lobula Tongue, and Hydronephrosis (Whelan Syndrome) ]	842	(1)
OFD Type VIII (OFD and Retinal Abnormalities)	843	(1)
Miscellaneous or Unclassifiable Syndromes	843	(1)
Differential Diagnosis	843	(1)
Otopalatodigital Syndrome Type I	844	(3)
Craniofacial and Orofacial Findings	844	(1)
Auditory System	844	(1)
Central Nervous System	845	(1)
Musculoskeletal System	845	(1)
Diagnosis	846	(1)
Otopalatodigital Syndrome, Type II	847	(3)
Craniofacial Findings	847	(1)
Central Nervous System	847	(1)
Musculoskeletal System	847	(1)
Other Findings	848	(1)
Auditory System	848	(1)
Laboratory Aids	848	(1)
Diagnosis	848	(2)
Orofacial Clefting Syndromes: General Aspects	850	(27)
Facial Clefts and Associated Anomalies	850	(10)
Introduction	850	(1)
Embryology	850	(2)
Epidemiology	852	(1)
Cleft Lip with or without Cleft Palate	852	(1)
Isolated Cleft Palate	853	(3)
Genetics	856	(2)
Recurrence Risks	858	(1)
Associated Anomalies	859	(1)
Skull, Facial Bones, and Denitition	860	(1)
Prenatal Diagnosis	860	(1)
Robin Sequence	860	(5)
Clinical Manifestations	862	(3)
Robin Sequence, Congenital Thrombocytopenia, Agenesis the Corpus Callosum, Distinctive Facies, and Developmental Delay	865	(1)
Robin Sequence, Unusual Facies, and Digital Anomalies	865	(1)
Robin Sequence, Ventricular Extrasystoles with Syncopal Episodes, and Digital Hypoplasia	865	(1)
Robin Sequence, Short Stature, Vertebral Anomalies, Shor Neck, and Mental Retardation	865	(1)
Robin Sequence, Mental Retardation, and Brachydactyly	866	(1)
Noncleft Palatal Anomalies	866	(1)
Tessier Clefting System	867	(1)
Lateral (Transverse) Facial Clefts	868	(3)
Oblique Facial Clefts	871	(2)
Median Cleft of the Upper Lip	873	(1)
Lateral Sinus of the Upper Lip	874	(1)
Median Cleft of Upper Lip, Double Frenum, and Hamartoma of Columella and/or Anterior Alveolar Ridge	874	(2)
Median Mandibular Cleft (Tessier Type 30)	876	(1)
Orofacial Clefting Syndromes: Common and Well-Known Syndromes	877	(35)
Cerebro-Costo-Mandibular Syndrome (Rib-Gap Syndrome)	877	(1)
EEC Syndrome (Electrodactyly-Ectodermal Dysplasia-Clefting Syndrome)	878	(5)
Facies	879	(1)
Extremities	879	(1)
Eyes	879	(1)
Skin, Hair, and Nails	879	(1)
Central Nervous System	879	(1)
Genitourinary System	879	(1)
Endocrine System	879	(1)
Otolaryngologic Manifestations	879	(1)
Oral Manifestations	879	(1)
Differential Diagnosis	880	(3)
ECP Syndrome (Ectrodactyly-Cleft Palate Syndrome)	883	(1)
Ectrodactyly of the Feet and Cleft Palate (Patterson-Stevenson-Fontaine Syndrome)	883	(1)
Cleft Lip/Palate, Cardiac Anomalies, Genital Anomalies, and Ectrodactyly (Acro-Cardio-Facial Syndrome)	883	(1)
Cleft Lip/Palate, Ectodermal Dysplasia with [Hay-Wells (AEC) Syndrome] or without [Rapp-Hodgkin Syndrome] Ankyloblepharon Filiforme	883	(3)
Clinical Findings	883	(1)
Craniofacial Findings	884	(1)
Skin	884	(1)
Ocular System	884	(1)
Genitourinary System	884	(1)
Other	884	(1)
Diagnosis	884	(2)
Bowen-Armstrong Syndrome (Cleft Lip-Palate, Ectodermal Dysplasia, and Mental Retardation)	886	(1)
Filiform Adhesions of the Eyelids and Cleft Lip-Palate	887	(1)
Larsen Syndrome	888	(3)
Facies	888	(1)
Skeletal System	888	(1)
Cardiovascular Anomalies	889	(1)
Central Nervous System	889	(1)
Oral Manifestations	889	(1)
Differential Diagnosis	889	(2)