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otospondylomegaepiphyseal dysplasia, autosomal dominant

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

Synonyms

  • COL11A2 Stickler syndrome
  • OSMED, Heterozygous
  • OSMED, heterozygous
  • OSMEDA
  • Piere-Robin syndrome
  • Pierre Robin malformation
  • Pierre Robin sequence-fetal chondrodysplasia syndrome
  • Pierre Robin syndrome with fetal chondrodysplasia
  • Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type
  • Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly
  • Pierre Robin syndrome with foetal chondrodysplasia
  • Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type
  • Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly
  • Pierre Robin syndrome-fetal chondrodysplasia syndrome
  • STICKLER syndrome, type III
  • STL3
  • Stickler syndrome caused by mutation in COL11A2
  • Stickler syndrome nonocular type
  • Stickler syndrome, Nonocular type
  • Stickler syndrome, non-ocular type
  • Stickler syndrome, type 3
  • Stickler syndrome, type III, formerly
  • WZS
  • Weissenbacher- Zweymuller syndrome
  • Weissenbacher-Zweymuller syndrome
  • Weissenbacher-Zweymüller syndrome
  • heterozygous OSMED
  • heterozygous otospondylomegaepiphyseal dysplasia
  • otospondylomegaepiphyseal dysplasia, autosomal dominant
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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