Hypoplastic Tibiae-Postaxial Polydactyly Syndrome

Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.

Epidemiology

Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature.

Clinical description

Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb.

Etiology

An association with Hirschprung disease has been reported. It is suggested that hypoplastic tibia-polydactyly syndrome and triphalangeal thumb-polysyndactyly syndrome (see this term) may be variants of the same disorder.

Genetic counseling

Autosomal dominant inheritance has been reported.