chondrodystrophy with sensorineural deafness

(redirected from Nance-Sweeney chondrodysplasia)

chondrodystrophy with sensorineural deafness

[MIM*215150]
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.

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.

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) [MIM*215150]
Skeletal dysplasia characterized by dwarfism, flat nasal bridge, cleft palate, sensorineural deafness, large epiphyses, and flattening of vertebral bodies.