Otospondylomegaepiphyseal dysplasia
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| Otospondylomegaepiphyseal dysplasia | |
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| Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics  |
Otospondylomegaepiphyseal dysplasia (OSMED) is an
The features of OSMED are similar to those of another skeletal disorder,
Pathophysiology
Mutations in the
OSMED is inherited in an
Diagnosis
The distinctive characteristics of OSMED include severe bone and joint problems and very severe hearing loss. This disorder affects the
Treatment
Treatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain.
Epidemiology
The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported.
References
- Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kaariainen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L (2000). "Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene". Am J Hum Genet. 66 (2): 368–77. PMID 10677296.
- van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG (1997). "Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene" (PDF). Am J Med Genet. 70 (3): 315–23. S2CID 20127516.
External links
This article incorporates public domain text from The U.S. National Library of Medicine