chondrodysplasia


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.

Medical dictionary. 2011.

Look at other dictionaries:

  • chondrodysplasia — chondrodysplasia. См. хондродисплазии. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • chondrodysplasia — noun A genetic disorder characterized by short limbed dwarfism …   Wiktionary

  • Chondrodysplasia — Chon|dro|dys|pla̱sia* [↑chondro... u. ↑Dysplasie] w; , ...iae; in der Fügung: Chon|dro|dys|pla̱sia mala̱cica: Wachstumsstörung mit schleimiger Erweichung des Knorpelgewebes …   Das Wörterbuch medizinischer Fachausdrücke

  • chondrodysplasia — chon·dro·dys·pla·sia …   English syllables

  • chondrodysplasia — chondro osteodystrophy; = chondrodystrophy; 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… …   The new mediacal dictionary

  • chondrodysplasia — | ̷ ̷ ̷ ̷də̇ˈsplāzh(ē)ə noun ( s) Etymology: New Latin, from chondr + dys + plasia : a hereditary skeletal disorder characterized by the formation of exostoses at the epiphyses and resulting in arrested development and deformity called also… …   Useful english dictionary

  • Chondrodysplasia punctata — Classification and external resources ICD 10 Q77.3 DiseasesDB 32527 …   Wikipedia

  • Chondrodysplasia punctata — Klassifikation nach ICD 10 Q77.3 Chondrodysplasia punctata Syndrome …   Deutsch Wikipedia

  • Chondrodysplasia, metaphyseal (McKusick type) — Also known as cartilage hair hypoplasia syndrome, this is a specific genetic form of short limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum),… …   Medical dictionary

  • chondrodysplasia punctata — a heterogeneous group of bone dysplasias whose common characteristic is stippling of the epiphyses in infancy. There are a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi HÑŒnermann syndrome), and a… …   Medical dictionary


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