Multiple epiphyseal dysplasia

Common Name(s)

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Both types have relatively mild signs and symptoms, which may include joint pain that most commonly affects the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED is additionally characterized by malformations of the hands, feet, and knees; scoliosis; and other abnormalities. The majority of individuals are diagnosed during childhood, but some mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.
 

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Condition Specific Organizations

Following organizations serve the condition "Multiple epiphyseal dysplasia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Multiple epiphyseal dysplasia" returned 32 free, full-text research articles on human participants. First 3 results:

EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia.
 

Author(s): Feng-Xia Liu, Yan-Xiang Li, Xu-de Zhang, Cui-Ai Ren, Shang-Zhi Huang, Meng-Xue Yu

Journal: Chin. Med. J.. 2013 Mar;126(6):1103-7.

 

Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).

Last Updated: 19 Mar 2013

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Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia.
 

Author(s): Bekhzad Akhmedov, Ki Hyuk Sung, Chin Youb Chung, Kyoung Min Lee, Moon Seok Park

Journal: Clin. Orthop. Relat. Res.. 2012 Dec;470(12):3566-76.

 

Although radiographic measurements are used in multiple epiphyseal dysplasia (MED) during correction of lower-limb alignment, the reliabilities of the measurements are unclear.

Last Updated: 8 Nov 2012

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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
 

Author(s): Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali

Journal:

 

We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26.

Last Updated: 8 Nov 2012

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Reviews from the PubMed Database

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The terms "Multiple epiphyseal dysplasia" returned 1 free, full-text review articles on human participants. First 3 results:

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
 

Author(s): Jason Kennedy, Gail Jackson, Simon Ramsden, Jacky Taylor, William Newman, Michael J Wright, Dian Donnai, Rob Elles, Michael D Briggs

Journal: Eur. J. Hum. Genet.. 2005 May;13(5):547-55.

 

The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia ...

Last Updated: 26 Apr 2005

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis IV A; Mucopolysaccharidosis VI

 

Last Updated: 2 Aug 2013

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