Inherited syndrome associated with mild mental retardation, malformations of the extremities and occasionally deafness.
Anonychia Onychodystrophy Brachydactyly, Type B Syndrome; Nail dysplasia-camptodactyly-brachydactyly Type B Syndrome.
Reported in only one kindred across five generations.
It is suspected to be inherited as an autosomal dominant inheritance with variable penetrance.
The malformations are confined to the limbs: absent or dystrophic finger- and 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.
RK: Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. Clin Genet