Multiple Epiphyseal Dysplasia, Recessive.

Details

Serval ID
serval:BIB_C445A08A94F5
Type
A part of a book
Publication sub-type
Chapter: chapter ou part
Collection
Publications
Institution
Title
Multiple Epiphyseal Dysplasia, Recessive.
Title of the book
GeneReviews
Author(s)
Bonafé L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A.
Publisher
University of Washington
Address of publication
Seattle
Publication state
Published
Issued date
2010
Editor
Pagon R.A., Bird T.C., Dolan C.R., Stephens K.
Pages
online
Edition
March 18
Language
english
Notes
Publication Status: ppublish Initial Posting: August 29, 2002; Last Update: March 18, 2010.
Abstract
Disease characteristics. Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have some abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild. Diagnosis/testing. Diagnosis of EDM4/rMED is based on clinical and radiographic findings. SLC26A2 is the only gene known to be associated with EDM4/rMED. Molecular genetic testing is available on a clinical basis. Management.
Treatment of manifestations: physiotherapy for muscular strengthening; cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs (NSAIDs); orthopedic surgery as indicated. Surveillance: radiographs as indicated. Agents/circumstances to avoid: sports involving joint overload. Genetic counseling. EDM4/rMED is inherited in an autosomal recessive manner. At conception, each sib of a proband with EDM4/rMED has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk is possible if both disease-causing alleles in the family are known and the carrier status of the parents has been confirmed. Requests for prenatal testing for mild conditions such as EDM4/rMED are not common.
Pubmed
Create date
02/02/2011 12:11
Last modification date
20/08/2019 15:39
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