Syndromes
|
MIM
|
Key features
|
References
|
Neurocristopathy syndromes
|
WS4 (Shah-Waardenburg) | 277580 | Pigmentary anomalies (white forelock, iris hypoplasia, patchy hypopigmentation), deafness |
53–57
|
Yemenite deaf-blind-hypopigmentation | 601706 | Hearing loss, eye anomalies (microcornea, coloboma, nystagmus), pigmentary anomalies |
60 |
BADS | 227010 | Hearing loss, hypopigmentation of the skin and retina |
61 |
Piebaldism | 172800 | Patchy hypopigmentation of the skin |
62, 63
|
Haddad | 209880 | Congenital central hypoventilation |
70, 71
|
MEN2A | 171400 | Medullary thyroid carcinoma, phaeochromocytoma, hyperplasia of the parathyroid |
43–50
|
Riley-Day | 223900 | Autonomic nervous system anomalies | |
|
HSCR mandatory |
Goldberg-Shprintzen | 235730 | Cleft palate, hypotonia, microcephaly, mental retardation, dysmorphic facial features |
79 |
| 235740 | Polydactyly, unilateral renal agenesis, hypertelorism, deafness |
82 |
HSCR with limbs anomalies | 235750 | Postaxial polydactyly, ventricular septal defect |
83 |
235760 | Hypoplasia of distal phalanges and nails, dysmorphic features |
84 |
604211 | Preaxial polydactyly, heart defect, laryngeal anomalies |
85 |
306980 | Brachydactyly type D |
86 |
BRESHEK | | Brain abnormalities, Retardation, Ectodermal dysplasia, Skeletal malformation, Hirschsprung disease, Ear/eye anomalies, Kidney dysplasia |
87 |
Mesomelic dysplasia, Werner type | | Mesomelia, polydactyly |
170
|
|
HSCR occasionally associated |
Bardet-Biedl and/or | 209900 | Pigmentary retinopathy, obesity, hypogenitalism, mild mental retardation, postaxial polydactyly |
91, 92
|
Kauffman-McKusick | 236700 | Hydrometrocolpos, postaxial polydactyly, congenital heart defect |
89
|
Smith-Lemli-Opitz | 270400 | Growth retardation, microcephaly, mental retardation, hypospadias, 2–3 toes syndactyly, dysmorphic features |
96 |
Cartilage-hair hypoplasia | 250250 | Short limb dwarfism, metaphyseal dysplasia, immunodeficiency |
97
|
|
HSCR rarely associated |
Fukuyama congenital muscular dystrophy | 253800 | Muscular dystrophy, polymicrogyria, hydrocephalus, MR, seizures |
99, 100
|
Clayton-Smith | 258840 | Dysmorphic features, hypoplastic toes and nails, ichthyosis. |
101 |
Kaplan | 304100 | Agenesis of corpus callosum, adducted thumbs, ptosis, muscle weakness |
102
|
Okamoto | 308840 | Hydrocephalus, cleft palate, corpus callosum agenesis |
103 |
|
Miscellaneous associations |
Pallister-Hall (CAVE) | 140510 | | |
Fryns | 229850 | | |
Aarskog | 100050 | | |
Jeune asphyxiating thoracic dystrophy | 208500 | | |
Frontonasal dysplasia | 136760 | | |
Osteopetrosis | | | |
Goldenhar | 164210 | | |
Lesch-Nyhan | 308000 | | |
Rubinstein-Taybi | 180849 | | |
Toriello-Carey | 217980 | | |
SEMDJL | 271640 | | |