Conditions / Genetic
otospondylomegaepiphyseal dysplasia, autosomal recessive
info · Genetic
An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and h
An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
Signs and symptoms
- Anteverted nares
- Short stature
- Short 5th metacarpal
- Lumbar hyperlordosis
- Prominent supraorbital ridges
- Premature osteoarthritis
- Midface retrusion
- Depressed nasal bridge
- Sensorineural hearing impairment
- Proptosis
Also known as: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHONDRODYSPLASIA; OSMEDB