Table 3

Syndromes associated with HSCR (reprinted and adapted from Scriver CM et al, eds. “The metabolic and molecular bases of inherited diseases” 8th ed. Chap 251. New York: McGraw-Hill: 6231-55.)

Syndromes MIM Key features References
Neurocristopathy syndromes
WS4 (Shah-Waardenburg)277580Pigmentary anomalies (white forelock, iris hypoplasia, patchy hypopigmentation), deafness 53–57
Yemenite deaf-blind-hypopigmentation601706Hearing loss, eye anomalies (microcornea, coloboma, nystagmus), pigmentary anomalies 60
BADS227010Hearing loss, hypopigmentation of the skin and retina 61
Piebaldism172800Patchy hypopigmentation of the skin 62, 63
Haddad209880Congenital central hypoventilation 70, 71
MEN2A171400Medullary thyroid carcinoma, phaeochromocytoma, hyperplasia of the parathyroid 43–50
Riley-Day223900Autonomic nervous system anomalies
HSCR mandatory
Goldberg-Shprintzen235730Cleft palate, hypotonia, microcephaly, mental retardation, dysmorphic facial features 79
235740Polydactyly, unilateral renal agenesis, hypertelorism, deafness 82
HSCR with limbs anomalies235750Postaxial polydactyly, ventricular septal defect 83
235760Hypoplasia of distal phalanges and nails, dysmorphic features 84
604211Preaxial polydactyly, heart defect, laryngeal anomalies 85
306980Brachydactyly type D 86
BRESHEKBrain abnormalities, Retardation, Ectodermal dysplasia, Skeletal malformation, Hirschsprung disease, Ear/eye anomalies, Kidney dysplasia 87
Mesomelic dysplasia, Werner typeMesomelia, polydactyly 170
HSCR occasionally associated
Bardet-Biedl and/or209900Pigmentary retinopathy, obesity, hypogenitalism, mild mental retardation, postaxial polydactyly 91, 92
Kauffman-McKusick236700Hydrometrocolpos, postaxial polydactyly, congenital heart defect 89
Smith-Lemli-Opitz270400Growth retardation, microcephaly, mental retardation, hypospadias, 2–3 toes syndactyly, dysmorphic features 96
Cartilage-hair hypoplasia250250Short limb dwarfism, metaphyseal dysplasia, immunodeficiency 97
HSCR rarely associated
Fukuyama congenital muscular dystrophy253800Muscular dystrophy, polymicrogyria, hydrocephalus, MR, seizures 99, 100
Clayton-Smith258840Dysmorphic features, hypoplastic toes and nails, ichthyosis. 101
Kaplan304100Agenesis of corpus callosum, adducted thumbs, ptosis, muscle weakness 102
Okamoto308840Hydrocephalus, cleft palate, corpus callosum agenesis 103
Miscellaneous associations
Pallister-Hall (CAVE)140510
Jeune asphyxiating thoracic dystrophy208500
Frontonasal dysplasia136760