otospondylomegaepiphysial dysplasia

oto·spon·dylome·ga·epi·phy·sial dysplasia

[MIM*215150]
a skeletal dysplasia inherited as an autosomal recessive, caused by a mutation in the COL11A2 gene; characterized by short stature, large epiphyses, vertebral anomalies, and sensorineural deafness.
See also: chondrodystrophy with sensorineural deafness.

chon·dro·dys·tro·phy with sen·sor·i·neu·ral deaf·ness

(kon'drō-dis'trŏ-fē sen'sŏr-ē-nūr'ăl def'nĕs)
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, otospondylomegaepiphysial dysplasia.