U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Otospondylomegaepiphyseal dysplasia, autosomal recessive

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Synonyms
Chondrodystrophy with sensorineural deafness; Insley-Astley syndrome; Nance Sweeney chondrodysplasia

Summary

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). [from OMIM]

Available tests

84 tests are in the database for this condition.

Clinical tests (84 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3, COL11A2
    Summary: collagen type XI alpha 2 chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.