Acropectorovertebral Dysplasia

A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).

Epidemiology

It has been described in less than 30 patients from three unrelated families.

Clinical description

Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.

Etiology

The causative gene has been mapped to chromosome region 2q36.

Genetic counseling

This syndrome is transmitted as an autosomal dominant trait with full penetrance.