Skip to Content
Medical Term:

chondrodystrophy with sensorineural deafness


Definition: a skeletal dysplasia characterized by dwarfism, flat nasal bridge, cleft palate, sensorineural deafness, large epiphyses, and flattening of the vertebral bodies; autosomal recessive inheritance, caused by mutation in the type XI collagen gene (COL11A2) on chromosome 6p; dominant forms exist.

Synonym(s): Nance-Insley syndrome, Nance-Sweeney chondrodysplasia, OSMED

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.