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A disorder involving nail dysplasia and bone abnormalities.

Anonychia-Onychodystrophy with Hypoplasia/Absence of Distal Phalanges.

Extremely rare disorder described in a total of 11 members from only two families. Autosomal dominant inheritance.

The diagnosis is made based on family history and the characteristic clinical features of hand and nails, which include onychodystrophy that can progress to complete loss of nails, digitalization of the thumbs, fifth finger brachydactyly, and absent or hypoplastic distal phalanges of hands and feet.

Because the findings are limited to the hands, no specific anesthetic concerns are expected to arise from this disorder.

Coffin-Siris Syndrome: A congenital syndrome with growth and mental retardation, coarse facies, nail dysplasia and skeletal anomalies.

Cooks RG, Hertz M, Katznelson MB, et al: A new nail dysplasia syndrome with onychonychia and absence and /or hypoplasia of distal phalanges. Clin Genet 27:85, 1985.  [PubMed: 3978841]
Nevin NC, Thomas PS, Eedy DJ, et al: Anonychia and absence/ hypoplasia of distal phalanges (Cooks syndrome): Report of a second family. J Med Genet 32:638, 1995.  [PubMed: 7473658]

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