Radial ray hypoplasia choanal atresia

Other Names: Radial ray hypoplasia and choanal atresia; Goldblatt-Viljoen syndrome

An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.

Epidemiology

It has been reported in a father and his two daughters.

Signs and symptoms

The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The condition is most probably hereditary, transmitted as an autosomal dominant trait.

NIH genetic and rare disease info

• NIH info on Radial ray hypoplasia choanal atresia

Radial ray hypoplasia choanal atresia is a rare disease.