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Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), 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.
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia. Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [3] The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous).
1299 12841 Ensembl ENSG00000092758 ENSMUSG00000027570 UniProt Q14050 n/a RefSeq (mRNA) NM_001853 NM_009936 NM_001378777 RefSeq (protein) NP_001844 n/a Location (UCSC) Chr 20: 62.82 – 62.84 Mb Chr 2: 180.24 – 180.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene. Function This gene encodes one of ...
Pseudoachondroplasia is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein (COMP). Mutation in the COMP gene can also cause multiple epiphyseal dysplasia. Despite the radioclinical similarities between pseudoachondroplasia and multiple epiphyseal dysplasia, the latter is less severe. [3]
The other features include multiple epiphyseal dysplasia, osteopenia, intellectual disability, and hepatic and renal dysfunction. [1] Patients having features that suggest Wolcott–Rallison syndrome can be referred for genetics testing. The key way to test for this disease is through genetic testing for EIKF2AK3 mutations. [7]
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. [1] The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones ( epiphyses and metaphyses ).
The condition is most commonly found in children between the ages of 4 and 10. Common symptoms include pain in the hip, knee, or ankle (since hip pathology can cause pain to be felt in a normal knee or ankle), or in the groin; this pain is exacerbated by hip or leg movement, especially internal hip rotation (with the knee flexed 90°, twisting the lower leg away from the center of the body).