Recessive multiple epiphyseal dysplasia

Jump to: navigation, search

WikiDoc Resources for Recessive multiple epiphyseal dysplasia

Articles

Most recent articles on Recessive multiple epiphyseal dysplasia

Most cited articles on Recessive multiple epiphyseal dysplasia

Review articles on Recessive multiple epiphyseal dysplasia

Articles on Recessive multiple epiphyseal dysplasia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Recessive multiple epiphyseal dysplasia

Images of Recessive multiple epiphyseal dysplasia

Photos of Recessive multiple epiphyseal dysplasia

Podcasts & MP3s on Recessive multiple epiphyseal dysplasia

Videos on Recessive multiple epiphyseal dysplasia

Evidence Based Medicine

Cochrane Collaboration on Recessive multiple epiphyseal dysplasia

Bandolier on Recessive multiple epiphyseal dysplasia

TRIP on Recessive multiple epiphyseal dysplasia

Clinical Trials

Ongoing Trials on Recessive multiple epiphyseal dysplasia at Clinical Trials.gov

Trial results on Recessive multiple epiphyseal dysplasia

Clinical Trials on Recessive multiple epiphyseal dysplasia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Recessive multiple epiphyseal dysplasia

NICE Guidance on Recessive multiple epiphyseal dysplasia

NHS PRODIGY Guidance

FDA on Recessive multiple epiphyseal dysplasia

CDC on Recessive multiple epiphyseal dysplasia

Books

Books on Recessive multiple epiphyseal dysplasia

News

Recessive multiple epiphyseal dysplasia in the news

Be alerted to news on Recessive multiple epiphyseal dysplasia

News trends on Recessive multiple epiphyseal dysplasia

Commentary

Blogs on Recessive multiple epiphyseal dysplasia

Definitions

Definitions of Recessive multiple epiphyseal dysplasia

Patient Resources / Community

Patient resources on Recessive multiple epiphyseal dysplasia

Discussion groups on Recessive multiple epiphyseal dysplasia

Patient Handouts on Recessive multiple epiphyseal dysplasia

Directions to Hospitals Treating Recessive multiple epiphyseal dysplasia

Risk calculators and risk factors for Recessive multiple epiphyseal dysplasia

Healthcare Provider Resources

Symptoms of Recessive multiple epiphyseal dysplasia

Causes & Risk Factors for Recessive multiple epiphyseal dysplasia

Diagnostic studies for Recessive multiple epiphyseal dysplasia

Treatment of Recessive multiple epiphyseal dysplasia

Continuing Medical Education (CME)

CME Programs on Recessive multiple epiphyseal dysplasia

International

Recessive multiple epiphyseal dysplasia en Espanol

Recessive multiple epiphyseal dysplasia en Francais

Business

Recessive multiple epiphyseal dysplasia in the Marketplace

Patents on Recessive multiple epiphyseal dysplasia

Experimental / Informatics

List of terms related to Recessive multiple epiphyseal dysplasia


Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees. [1]

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.

Recessive multiple epiphyseal dysplasia has an autosomal recessive pattern of inheritance.

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

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.



Linked-in.jpg