Campomelic dysplasia
Analysis ID 95
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Campomelic dysplasia
OMIM #114290
Clinical information Campomelic dysplasia is an inherited autosomal dominant congenital bone dysplasia, occurring with an incidence of 1per 100.000 to 200.000 livebirths. The disorder is caused by mutations in the SOX9 gene, that encodes for a transcriptional factor (responsible for cartilage growth and genital organ differentiation). Classical picture of campomelic dysplasia includes skeletal dysplasia, with characteristic femoral and tibial bowing, abnormal skull shape, prominent forehead, flat face with depressed nasal bridge, micrognathia, short neck, small, narrow bell-shaped chest. Up to two-thirds of affected XY individuals have genital abnormalities or sex reversal (and are phenotypicly females).
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in an EDTA tube
Analyzed genes SOX9
Analysis description
Analysis indication Symptoms suggesting campomelic dysplasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders