Table 4 Syndromes associated with HSCR
| Syndromes | MIM | Key features | References | ||
| Syndromic NCC disorders | WS4 (Shah-Waardenburg) | 277580 | Pigmentary anomalies (white forelock, iris hypoplasia, patchy hypopigmentation) | 118, 120–122, 168 | |
| Yemenite deaf-blind-hypopigmentation | 601706 | Hearing loss, eye anomalies (microcornea, coloboma, nystagmus), pigmentary anomalies | 153 | ||
| BADS | 227010 | Hearing loss, hypopigmentation of the skin and retina | 169 | ||
| Piebaldism | 172800 | Patchy hypopigmentation of the skin | 170, 171 | ||
| Haddad | 209880 | Congenital central hypoventilation | 172–174 | ||
| MEN2A | Medullary thyroid carcinoma, pheochromocytoma, hyperplasia of the parathyroid | 47, 175–181 | |||
| Riley-Day | 223900 | Autonomic nervous system anomalies | |||
| HSCR mandatory | Goldberg-Shprintzen | 235730 | Mental retardation, polymicrogyria, microcephaly, CF, coloboma, facial dysmorphic features | 182–184 | |
| HD with limb anomalies | 235740 | Polydactyly, unilateral renal agenesis, hypertelorism, deafness | 185 | ||
| 235750 | Postaxial polydactyly, ventricular septal defect | 186 | |||
| 235760 | Hypoplasia of distal phalanges and nails, dysmorphic features | 187 | |||
| 604211 | Preaxial polydactyly, heart defect, laryngeal anomalies | 188 | |||
| 306980 | Brachydactyly type D | 189 | |||
| BRESHEK | Brain abnormalities , Retardation, Ectodermal dysplasia, Skeletal malformation, Hirschsprung disease, Ear/eye anomalies, Kidney dysplasia | 190 | |||
| Mowat-Wilson | 235730 | Mental retardation, microcephaly, epilepsy, facial gestalt, hypospadias, renal anomalies, ACC, CCD | 135, 148, 191–193 | ||
| HSCR occasionally associated | Bardet-Biedl syndrome and/or | 209900 | Pigmentary retinopathy, obesity, hypogenitalism, mild mental retardation, postaxial polydactyly | 194, 195 | |
| Kauffman-McKusick | 236700 | Hydrometrocolpos, postaxial polydactyly, congenital heart defect | 196 | ||
| Smith-Lemli-Opitz | 270400 | Growth retardation, microcephaly, mental retardation, hypospadias, 2–3 toes syndactyly, dysmorphic features | 197 | ||
| Cartilage-hair hypoplasia | 250250 | Shortlimb dwarfism, metaphyseal dysplasia immunodeficiency | 198 | ||
| HSAS/MASA | 307000 | Hydrocephalus, aqueductal stenosis, spasticity adducted thumbs, ACC, mental retardation | 199 | ||
| HSCR rarely associated | Fukuyama congenital muscular dystrophy | 253800 | Muscular dystrophy, polymicrogyria, hydrocephalus, MR, seizures | 200, 201 | |
| Clayton-Smith | 258840 | Dysmorphic features, hypoplastic toes and nails, ichthyosis | 202 | ||
| Kaplan | 304100 | Agenesis of corpus callosum, adducted thumbs, ptosis, muscle weakness | 203 | ||
| Okamoto | 308840 | Hydrocephalus, cleft palate corpus callosum agenesia | 204 | ||
| Werner mesomelic dysplasia | 188770 | 205, 206 | |||
| Pitt-Hopkins | 610954 | Epileptic encephalopathy, facial dysmorphic features, bouts of hyperventilation, dysautonomia | 141–143 | ||
| Jeune asphyxing thoracic dystrophia | 208500 | 207 | |||
| Miscellaneous associations | Pallister-Hall (CAVE) | 140510 | |||
| Fryns | 229850 | ||||
| Aarskog | 100050 | ||||
| Fronto-nasal dysplasia | 136760 | ||||
| Osteopetrosis | |||||
| Goldenhar | 164210 | ||||
| Lesch-Nyhan | 308000 | ||||
| Rubinstein-Taybi | 180849 | ||||
| Toriello-Carey | 217980 | ||||
| SEMDJL | 271640 |
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Adapted from: Scriver CM et al. The metabolic and molecular bases of inherited diseases. 8th ed. McGraw-Hill, pp 6231-55.
