A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).
A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).
D002971:Cleft Lip / Q000000981:diagnostic imaging*; D002972:Cleft Palate / Q000000981:diagnostic imaging*; D005128:Eye Diseases / Q000151:congenital / Q000000981:diagnostic imaging*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D010859:Pigmentation Disorders / Q000151:congenital / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging