Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003241:Consanguinity; D004423:Ear / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D013576:Syndactyly / Q000150:complications; D013577:Syndrome