Alternative titles and symbols : Cmd1; CMPD1; CMPD1/SRA1;
Included titles and symbols : Campomelic dysplasia with autosomal sex reversal; Acampomelic campomelic dysplasia; Acampomelic campomelic dysplasia with autosomal sex reversal; Camptomelic dysplasia;
Description : Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing
and angulation of long bones, together with other skeletal and extraskeletal defects.
Up to two-thirds of affected XY individuals have a gradation of genital defects or
may develop as phenotypic females (Wagner et al., 1994).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the SRY-box 9 gene (SOX9, 114290.0001);