chondrodysplasia

SYN: chondrodystrophy. [chondro- + G. dys, bad, + plasis, a molding]

- c. calcificans congenita [MIM*118650] autosomal dominant inheritance characterized by asymmetric calcifications and dysplastic skeletal changes, less frequent occurrence of congenital cataracts and ichthyosis compared to other forms, and relatively good prognosis. SYN: Conradi disease, Conradi-Hünermann disease.

- Nance-Sweeney c. SYN: chondrodystrophy with sensorineural deafness.

- c. punctata a developmental disorder characterized by epiphyseal stippling, coronal clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation. Autosomal dominant and recessive and X-linked forms exist. SYN: dysplasia epiphysialis punctata, hypoplastic fetal chondrodystrophy, stippled epiphysis.

- rhizomelic c. punctata [MIM*215100] autosomal recessively inherited lethal c. caused by mutation in the PEX 7 gene encoding the peroxisomal type 2 targeting signal (PTS2) receptor on chromosomal 6q.

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chon·dro·dys·pla·sia .kän-drə-dis-'plāzh(-ē)-ə, -drō- n a hereditary skeletal disorder characterized by the formation of exostoses at the epiphyses and resulting in arrested development and deformity called also dyschondroplasia

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n.

any of various conditions in which there is abnormal cartilage development. It affects long bones and can cause short-limb dwarfism, overgrowth of the epiphysis, or other deformities. One particular form is an autosomal recessive syndrome most commonly found in Old Order Amish populations. See also achondroplasia.

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chon·dro·dys·pla·sia (kon″dro-dis-plaґzhə) [chondro- + dysplasia] any of a group of hereditary disorders of endochondral ossification that are characterized by disproportionate shortening of the limbs or trunk, so that affected individuals have either short limbs or short trunks. Severity ranges from mild short stature to malformations that are lethal in utero.