Multiple epiphyseal dysplasia
Última actualización 18 Aug 2020
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Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.
Descripción
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.
Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
EDM1
EDM2
EDM3
EDM4
EDM5
Epiphyseal dysplasia, Fairbank type
Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 4
Epiphyseal dysplasia, multiple, 5
Epiphyseal dysplasia, Ribbing type
MED
Multiple epiphyseal dysplasia, autosomal dominant
Multiple epiphyseal dysplasia, autosomal recessive
RMED
Related patient information and medicines
Patient information leaflet
Problemas de cadera
Causas de hip problems en children Developmental dysplasia of el hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is important to pick this up and treat it... See the separate leaflet called Developmental Dysplasia.
Patient information leaflet
Crecimiento restringido
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no... It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears. Spondo-epiphyseal dysplasia (SED). This is a.
Patient information leaflet
esófago de Barrett
The cells on the inside lining of the oesophagus are different and have little protection from stomach acid. There is a circular band of muscle (a sphincter) at the junction be... However, these cells have an increased risk, compared with normal gullet (oesophageal) cells, of turning cancerous in time. The changed cells in Barrett's oesophagus can.
Patient information leaflet
Epífisis femoral capital desplazada
A epifisiólisis femoral capital occurs when the upper, or capital, epiphysis of the thigh bone (femur) slips sideways off the end of the femur. (The epiphysis is the end part of the femur. A epifisiólisis femoral capital es one of the most common reasons for a painful hip in older and teenage children (adolescents). Around 10 per 100,000.
Patient information leaflet
Exámenes físicos de recién nacidos
Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the hip joint develops. Examination of your baby's scrotum (in boys). All boys have their scrotum examined to determine if the.
Patient information leaflet
Mieloma
. What is myeloma. Myeloma is a type of blood cancer. The cancer involves certain white blood cells called plasma cells. The cancerous plasma cells build up in the bone marrow. They also make a lot of one type of antibody. As a result, various symptoms develop. Myeloma is sometimes called multiple myeloma or myelomatosis. See the separate leaflet.
Lecturas adicionales y referencias
- Multiple epiphyseal dysplasia; MedlinePlus, National Library of Medicine.
- Ballhausen D, Bonafe L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet. 2003 Jan;40(1):65-71. doi: 10.1136/jmg.40.1.65. No abstract available.
- Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066.
- Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2024 Jul 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1123/
- Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240.
- Lachman RS, Krakow D, Cohn DH, Rimoin DL. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005 Feb;35(2):116-23. doi: 10.1007/s00247-004-1323-4. Epub 2004 Oct 21.
- Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1.
- Seo SG, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Park MS, Oh CW, Jeong C, Song KS, Kim OH, Park SS, Choi IH, Cho TJ. Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. BMC Musculoskelet Disord. 2014 Mar 15;15:84. doi: 10.1186/1471-2474-15-84.
- Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. 1999 Aug;36(8):621-4.
- Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001 Winter;106(4):244-50.
- Unger S, Superti-Furga A. SLC26A2-Related Multiple Epiphyseal Dysplasia. 2002 Aug 29 [updated 2023 Jan 19]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1306/
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