multiple epiphyseal dysplasia

multiple epiphyseal dysplasia
an inherited developmental abnormality of various epiphyses, which appear late and are mottled, flattened, fragmented, and usually hypoplastic; the digits are short and thick, with blunt ends, and stature may be diminished owing to flattening deformities at the hips, knees, and ankles. It can be caused by any of several mutations; most forms are autosomal dominant, but at least one is autosomal recessive; one of the autosomal dominant forms is caused by mutation in the COMP gene and is allelic with pseudoachondroplasia (q.v.). Called also d. epiphysealis multiplex.

Multiple epiphyseal dysplasia. The radiograph shows delayed bone maturation with small carpal centers of ossification and flattened small and fragmented epiphyses.

Medical dictionary. 2011.

Look at other dictionaries:

  • Multiple epiphyseal dysplasia — Classification and external resources ICD 9 756.56 OMIM 132400 226900 …   Wikipedia

  • 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. Some affected individuals are born with an inward and… …   Wikipedia

  • epiphyseal dysplasia — faulty growth and ossification of the epiphyses, with radiographically apparent stippling and decreased stature, not associated with thyroid disease. See d. epiphysealis hemimelica, multiple epiphyseal d., and chondrodysplasia punctata …   Medical dictionary

  • dysplasia — dysplastic /dis plas tik/, adj. /dis play zheuh, zhee euh, zee euh/, n. Pathol. abnormal growth or development of cells, tissue, bone, or an organ. [1930 35; DYS + PLASIA] * * * Abnormal formation of a bodily structure or tissue, usually bone,… …   Universalium

  • dysplasia epiphysealis multiplex — multiple epiphyseal d …   Medical dictionary

  • Dysplasia — Abnormal in form. From the Greek dys (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development. * * * Abnormal tissue development. SEE ALSO: heteroplasia.… …   Medical dictionary

  • Diastrophic dysplasia — Classification and external resources OMIM 222600 DiseasesDB 30759 eMedicine …   Wikipedia

  • Otospondylomegaepiphyseal dysplasia — Classification and external resources OMIM 215150 DiseasesDB 32024 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive …   Wikipedia

  • Hereditary multiple exostoses — Classification and external resources Photograph of the legs of a 26 year old male showing multiple lumps leading to deformity. ICD 10 Q …   Wikipedia

  • Thanatophoric dysplasia — Classification and external resources ICD 10 Q77.1 OMIM 187600 DiseasesDB …   Wikipedia