Autoszomális recesszív
Caused by changes in both copies of CANT1, an enzyme involved in making proteoglycans, the building blocks of cartilage.
Tünetek és jelek
Short stature beginning before birth, marked joint laxity with dislocations, and a round face are typical. X-rays show characteristic changes in the spine and the ends of the long bones. Progressive scoliosis is also reported.
Mit változtat a diagnózis
Orthopaedic care for dislocations and spinal curvature, physiotherapy and monitoring of breathing in early life. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
CANT1 Desbuquois dysplasia; DBQD1; Desbuquois dysplasia caused by mutation in CANT1; Desbuquois dysplasia type 1
