Autoszomális recesszív
Caused by changes in both copies of CDH11, which makes cadherin-11, an adhesion protein important for bone formation. The changes cause loss of function of the protein.
Tünetek és jelek
Distinctive facial features, including a short, broad head, a broad forehead, widely spaced eyes and a flat midface. Dental problems can occur, such as premature tooth loss and jaw cysts. Fusion of the neck vertebrae has been reported, as has hypospadias. Intellectual disability can occur and is sometimes mild.
Mit változtat a diagnózis
Care is tailored to the features present, with dental and maxillofacial care, spine assessment, urology for hypospadias and developmental support. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Vizsgált gének
Más néven
brachioskeletogenital syndrome; branchio-skeleto-genital syndrome; BSG syndrome; ESWS; hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss; hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss; hypospadias-hypertelorism-coloboma and deafness syndrome
