X-linked recessive
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.
Signs and symptoms
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.
What a diagnosis changes
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.
Genes analysed
Also known as
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
