Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly.
A family is reported with nail dysplasia and/or absent nails, long and broad finger-like thumbs, camptodactyly and absent fingers. Radiological studies revealed hypoplasia of metacarpals, metatarsals and distal phalanges. Two affected individuals have absent metacarpals and phalanges. The clinical and radiological features may constitute a distinct syndrome of autosomal dominant onychodystrophy and anonychia with Julia Bell brachydactyly type B.
D000328:Adult; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D010375:Pedigree; D013577:Syndrome