Table 4 Syndromes associated with HSCR
SyndromesMIMKey featuresReferences
Syndromic NCC disordersWS4 (Shah-Waardenburg)277580Pigmentary anomalies (white forelock, iris hypoplasia, patchy hypopigmentation)118, 120–122, 168
Yemenite deaf-blind-hypopigmentation601706Hearing loss, eye anomalies (microcornea, coloboma, nystagmus), pigmentary anomalies153
BADS227010Hearing loss, hypopigmentation of the skin and retina169
Piebaldism172800Patchy hypopigmentation of the skin170, 171
Haddad209880Congenital central hypoventilation172–174
MEN2AMedullary thyroid carcinoma, pheochromocytoma, hyperplasia of the parathyroid47, 175–181
Riley-Day223900Autonomic nervous system anomalies
HSCR mandatoryGoldberg-Shprintzen235730Mental retardation, polymicrogyria, microcephaly, CF, coloboma, facial dysmorphic features182–184
HD with limb anomalies235740Polydactyly, unilateral renal agenesis, hypertelorism, deafness185
235750Postaxial polydactyly, ventricular septal defect186
235760Hypoplasia of distal phalanges and nails, dysmorphic features187
604211Preaxial polydactyly, heart defect, laryngeal anomalies188
306980Brachydactyly type D189
BRESHEKBrain abnormalities , Retardation, Ectodermal dysplasia, Skeletal malformation, Hirschsprung disease, Ear/eye anomalies, Kidney dysplasia190
Mowat-Wilson235730Mental retardation, microcephaly, epilepsy, facial gestalt, hypospadias, renal anomalies, ACC, CCD135, 148, 191–193
HSCR occasionally associatedBardet-Biedl syndrome and/or209900Pigmentary retinopathy, obesity, hypogenitalism, mild mental retardation, postaxial polydactyly194, 195
Kauffman-McKusick236700Hydrometrocolpos, postaxial polydactyly, congenital heart defect196
Smith-Lemli-Opitz270400Growth retardation, microcephaly, mental retardation, hypospadias, 2–3 toes syndactyly, dysmorphic features197
Cartilage-hair hypoplasia250250Shortlimb dwarfism, metaphyseal dysplasia immunodeficiency198
HSAS/MASA307000Hydrocephalus, aqueductal stenosis, spasticity adducted thumbs, ACC, mental retardation199
HSCR rarely associatedFukuyama congenital muscular dystrophy253800Muscular dystrophy, polymicrogyria, hydrocephalus, MR, seizures200, 201
Clayton-Smith258840Dysmorphic features, hypoplastic toes and nails, ichthyosis202
Kaplan304100Agenesis of corpus callosum, adducted thumbs, ptosis, muscle weakness203
Okamoto308840Hydrocephalus, cleft palate corpus callosum agenesia204
Werner mesomelic dysplasia188770205, 206
Pitt-Hopkins610954Epileptic encephalopathy, facial dysmorphic features, bouts of hyperventilation, dysautonomia141–143
Jeune asphyxing thoracic dystrophia208500207
Miscellaneous associationsPallister-Hall (CAVE)140510
Fryns229850
Aarskog100050
Fronto-nasal dysplasia136760
Osteopetrosis
Goldenhar164210
Lesch-Nyhan308000
Rubinstein-Taybi180849
Toriello-Carey217980
SEMDJL271640

  • Adapted from: Scriver CM et al. The metabolic and molecular bases of inherited diseases. 8th ed. McGraw-Hill, pp 6231-55.