X-kromoszómához kötött recesszív
Caused by changes in ARSL, an arylsulfatase enzyme on the X chromosome that is thought to work with vitamin K-dependent processes in bone. Males are affected and carrier females usually have no features.
Tünetek és jelek
Underdevelopment of the middle of the face with a flat nose (nasal hypoplasia) and short end bones of the fingers are typical, with stippled calcification of cartilage seen on X-rays in infancy that fades with age. Short stature is common. Less often there is narrowing or instability of the neck spine, airway narrowing, hearing loss or developmental delay.
Mit változtat a diagnózis
Imaging of the neck spine, airway assessment before anaesthesia, hearing tests and ear, nose and throat follow-up. Female relatives can be offered carrier testing, and genetic counselling explains the chance of passing it on.
Vizsgált gének
Más néven
ARSE X-linked chondrodysplasia punctata; arylsulfatase E deficiency; brachytelephalangic chondrodysplasia punctata; CDPX1; chondrodysplasia punctata 1 X-linked recessive; chondrodysplasia punctata, X-linked recessive, X-linked recessive; CPXR; X-linked chondrodysplasia punctata caused by mutation in ARSE
