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Inherited syndrome associated with mild mental retardation, malformations of the extremities and occasionally deafness.

Anonychia Onychodystrophy Brachydactyly, Type B.

Reported in only one kindred across five generations. Autosomal dominant inheritance with variable penetrance.

The malformations are confined to the limbs: absent or dystrophic fingerand toenails, hypoplastic metacarpals, metatarsals, and distal phalanges, clinodactyly, and long, broad finger-like thumbs. Two individuals had absent metacarpals and phalanges. Mild mental retardation occurred in some individuals.

Mental retardation may limit cooperation. Sedative/anxiolytic premedication and/or the presence of the primary caregiver for induction of anesthesia may be helpful.

Kumar D, Levick RK: Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. Clin Genet 30:219, 1986.  [PubMed: 3780038]

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