A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.
A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree