Diseases title

Radial ray hypoplasia - choanal atresia )

Mut
Orpha Number: 3026
Synonym(s):
Goldblatt-Viljoen syndrome

Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.It has been reported in a father and his two daughters.The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.The condition is most probably hereditary, transmitted as an autosomal dominant trait.
source: Orphanet