Radial ray hypoplasia choanal atresia

From WikiMD's WELLNESSPEDIA

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]

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

Signs and symptoms[edit]

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

Inheritance[edit]

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]

Radial ray hypoplasia choanal atresia is a rare disease.

Rare and genetic diseases

Rare diseases - Radial ray hypoplasia choanal atresia

A-Z list of rare diseases
* 0-9 | A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see
Resources


Stub icon

This medical article is a stub. You can help WikiMD by expanding the page.


Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=Radial_ray_hypoplasia_choanal_atresia&oldid=2120739"