Triphalangeal thumbs brachyectrodactyly

Alternate names

Triphalangeal thumb and brachyectrodactyly syndrome; Triphalangeal thumb and brachy-ectrodactyly syndrome

Definition

Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.

NIH genetic and rare disease info

NIH info on Triphalangeal thumbs brachyectrodactyly

Triphalangeal thumbs brachyectrodactyly is a rare disease.

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