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At a glance

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.

Genetic inheritance

It is suspected to be inherited as an autosomal dominant inheritance with variable penetrance.

Clinical aspects

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.

Anesthetic considerations

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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