What does campomelic dysplasia mean?
Definitions for campomelic dysplasia
cam·pomel·ic dys·pla·si·a
This dictionary definitions page includes all the possible meanings, example usage and translations of the word campomelic dysplasia.
Wikipedia
Campomelic dysplasia
Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It can be lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and a significant proportion of patients survive into adulthood. The name is derived from the Greek roots campo (or campto), meaning bent, and melia, meaning limb. An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic males display a range of disorders of sexual development (DSD) and genital ambiguities or may even develop as normal phenotypic females as in complete 46 XY sex reversal. An atypical form of the disease with absence of bowed limbs is called, prosaically, acampomelic campomelic dysplasia (ACD) and is found in about 10% of patients, particularly those surviving the neonatal period.
U.S. National Library of Medicine
Campomelic Dysplasia
A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 gene (SRY-related HMG-box gene 9).
Numerology
Chaldean Numerology
The numerical value of campomelic dysplasia in Chaldean Numerology is: 1
Pythagorean Numerology
The numerical value of campomelic dysplasia in Pythagorean Numerology is: 7
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"campomelic dysplasia." Definitions.net. STANDS4 LLC, 2024. Web. 19 Apr. 2024. <https://www.definitions.net/definition/campomelic+dysplasia>.
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