Radial ray hypoplasia choanal atresia

From WikiMD's Food, Medicine & Wellness Encyclopedia

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[edit | edit source]

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

Signs and symptoms[edit | edit source]

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

Inheritance[edit | edit source]

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[edit source]

Radial ray hypoplasia choanal atresia is a rare disease.


Radial ray hypoplasia choanal atresia Resources
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Contributors: Deepika vegiraju