This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. Find sources: "Campomelic dysplasia" – news · newspapers · books · scholar · JSTOR(August 2021) (Learn how and when to remove this message)
Medical condition
Campomelic dysplasia
This condition is inherited in an autosomal dominant manner
Specialty
Medical genetics
Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features.[1]
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.[citation needed]
^Unger S, Scherer G, Superti-Furga A. Campomelic Dysplasia. 2008 Jul 31 [Updated 2021 Mar 18]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1760/
and 15 Related for: Campomelic dysplasia information
Campomelicdysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It can be...
expression. Mutations lead to the skeletal malformation syndrome campomelicdysplasia, frequently with autosomal sex-reversal and cleft palate. SOX9 sits...
infant is campomelicdysplasia, where hypoplasia of the scapulae and of the iliac bones with femoral dislocation may also occur. Campomelicdysplasia, caused...
patient in whom this mutation was detected had developed acampomelic campomelicdysplasia, a developmental disorder that causes skeletal, reproductive and...
genetic material between two or more chromosomes. Some forms of campomelicdysplasia, for example, result from CCRs.[citation needed] Heng and Gorelick...
Birt–Hogg–Dubé syndrome Bladder cancer Breast cancer Bruck syndrome Campomelicdysplasia Canavan disease Cerebroretinal microangiopathy with calcifications...
and gall bladder. Disorders associated with the ZFY gene include campomelicdysplasia, cystadenofibroma, and Frasier syndrome. GRCh38: Ensembl release...
syndrome Autoimmune polyendocrine syndrome type 1 (APECED) Acampomelic campomelicdysplasia Atelosteogenesis DNA sequences from 589,306 people were used, obtained...
development, which carries mutations in humans with the skeletal disorder campomelicdysplasia and associated XY sex reversal. Koopman's group also discovered Sox18...
"Clinical and molecular characterization of a Brazilian cohort of campomelicdysplasia patients, and identification of seven new SOX9 mutations". Genetics...
Global Information
