Classical-like, cardiac-valvular, dermatosparaxis, kyphoscoliotic, spondylodysplastic, musculocontractural, and brittle cornea syndrome EDSÂ are inherited in an autosomal recessive pattern. Type XII collagen regulates osteoblast polarity and communication during bone formation. The authors noted that the MRI findings in these patients differed from those in Bethlem myopathy patients with a mutation in the collagen VI genes (BTHLM1; 158810). Myopathic EDS results from mutations in the COL12A1 gene. Phenotypes for COL12A1 were set to Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type. medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. They have a 50% chance of inheriting a single mutated copy and being a carrier of the disease. There are currently 13 types of Ehlers-Danlos syndrome (EDS) that experts recognize. For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810). In a boy with Bethlem myopathy in whom collagen VI was found to be normal, Zou et al. It appears you entered an invalid email. A child born to parents who carry the same autosomal recessive mutation has a 25% chance of inheriting the mutant gene from both parents and developing the disease. If you ever want to write about it, let’s talk. Readers are advised to consult a physician or other qualified health care professional regarding treatment of their medical problems. Though 15 minor criteria are defined, suggestion for this type of EDS is based on the identified three major criteria. Biallelic mutations of the gene CHST14 are responsible for Musculocontractural EDS (mcEDS). [Full Text: https://rupress.org/jcb/article-lookup/doi/10.1083/jcb.201010010], Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N. C., Birk, D. E., Barton, E. R., Koch, M., Bonnemann, C. G. When you get a cut, it doesn’t heal very fast. #616471 While the OMIM database is open to the public, users seeking information about a personal Thanks so much for reading! While they’re associated with hEDS, they’re not proven to be the result of hEDS and they’re not specific enough to be criteria for diagnosis. This site uses Akismet to reduce spam. These tissues—found mostly in the skin, joints, and blood vessel walls—act like a glue to help provide strength and elasticity to the body’s structures, including the digestive system and essential organs. 2020 Mighty Proud Media, Inc. All Rights Reserved. The boy's nonconsanguineous parents were unaffected. We use cookies to enhance your experience. We just moved here and I need a doctor for my daughter. What Are the Types of Ehlers-Danlos Syndrome? [PubMed: 24334604, images, related citations] Types of Ehlers-Danlos Syndromes (EDS). Brittle cornea syndrome (BCS) is a subtype of EDS that mostly affects your cornea, the clear outer layer of your eyes. It’s estimated that less than one out of every 1 million people have cvEDS.6. This is all caused by a mutation in your ADAMTS2 gene, the gene behind the procollagen I N‐proteinase.
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