Autosomal recessive multiple epiphyseal dysplasia: Difference between revisions
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'''Autosomal recessive multiple epiphyseal dysplasia''', also called '''epiphyseal dysplasia, multiple, 4''' (EDM4), '''multiple epiphyseal dysplasia with clubfoot''' or –with bilayered patellae''',<ref name=omim>{{OMIM|226900}}</ref> is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=medar>{{cite pmid|20525296}}</ref> [[congenital disorder]] affecting [[cartilage]] and [[bone]] development. The disorder has relatively mild signs and symptoms, including joint pain, [[scoliosis]], and malformations of the hands, feet, and knees. <ref>[http://ghr.nlm.nih.gov/condition=multipleepiphysealdysplasia Genetics Home Reference]</ref> |
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Some affected individuals are born with an inward- and downward-turning foot (a [[clubfoot]]). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height. |
Some affected individuals are born with an inward- and downward-turning foot (a [[clubfoot]]). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height. |
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Revision as of 03:19, 22 July 2010
| Autosomal recessive multiple epiphyseal dysplasia |
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Autosomal recessive multiple epiphyseal dysplasia, also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae,[1] is an autosomal recessive[2] congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees. [3]
Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height.
Genetic prevalence
This condition is inherited in an autosomal recessive pattern, the incidence is unknown as many cases are not diagnosed due to mild symptoms.
Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. Recessive multiple epiphyseal dysplasia is the mildest condition in a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.
References
- ^ Online Mendelian Inheritance in Man (OMIM): 226900
- ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 20525296, please use {{cite journal}} with
|pmid=20525296instead. - ^ Genetics Home Reference
See also
External links
- Online Mendelian Inheritance in Man (OMIM): 226900
- Epiphyseal dysplasia, multiple, 4; Multiple epiphyseal dysplasia, autosomal recessive at NIH's Office of Rare Diseases
- "Multiple Epiphyseal Dysplasia, Recessive". GeneReviews -- NCBI Bookshelf.
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