- A disturbance in the development of the cartilage primordia of the long bones, especially the region of the epiphysial plates, resulting in arrested growth of the long bones and dwarfism in which the extremities are abnormally short, but the head and trunk are essentially normal; autosomal recessive inheritance. SYN: chondrodysplasia. [chondro- + G. dys, bad, + trophe nourishment]- hereditary deforming c. 1. SYN: hereditary multiple exostoses, under exostosis. 2. SYN: enchondromatosis.- myotonic c. a rare congenital disease that causes myotonia, muscular hypertrophy, joint and long bone abnormalities, and weakness. SYN: Schwartz-Jampel disease.- c. with sensorineural deafness [MIM*215150] a skeletal dysplasia characterized by dwarfism, flat nasal bridge, cleft palate, sensorineural deafness, large epiphyses, and flattening of the vertebral bodies; autosomal recessive inheritance, caused by mutation in the type XI collagen gene (COL11A2) on chromosome 6p; dominant forms exist. SYN: Nance-Insley syndrome, Nance-Sweeney chondrodysplasia, OSMED, otospondylomegaepiphyseal dysplasia.
* * *chon·dro·dys·tro·phic -dis-'trō-fik adj
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* * *chon·dro·dys·tro·phy (kon″dro-disґtrə-fe) [chondro- + dystrophy] a morbid condition characterized by abnormal development of cartilage.
Medical dictionary. 2011.