otospondylomegaepiphyseal dysplasia; chondrodystrophy with sensorineural deafness; Insley-Astley syndrome; mega-epiphyseal dwarfism; Nance-Insley syndrome; Nance-Sweeney chondrodysplasia; Oto-spondylo-megaepiphyseal dysplasia (OSMED)

Epidemiology

very rare

Pathology

• skeletal abnormalities
  • spondyloarthropathy
  • epiphyseal enlargements
• severe hearing loss
• abnormality in collagenopathy
  • collagen type 2 & collagen type 11
• enlarged joints, short hands & fingers, & vertebrae
• cleft palate

Genetics

• mutations in the COL11A2 gene
• autosomal recessive inheritance

Clinical manifestations

• distinctive facial features
  • protruding eyes
  • sunken nasal bridge
  • upturned nose with a large rounded tip
  • small lower jaw
• lack of eye involvement
• short stature
• back pain
• arthritis begins early in life
• severe high-tone hearing loss is common

Additional terms

• Weissenbacher-Zweymuller syndrome

Patient information

otospondylomegaepiphyseal dysplasia patient information

Database

• OMIM: https://mirror.omim.org/entry/215150