Chondrodysplasia Punctata, X-linked (ARSE)

Chondrodysplasia punctata is caused by pathogenic variants in the gene ARSE. The onset of this condition occurs in infancy. On x-ray, stippling in bones of the ankles, toes, and fingers may be seen. These x-ray findings typically disappear by childhood. Other symptoms include short stature, short fingertips and ends of toes, distinctive facial features, and spinal abnormalities in the neck that may cause compression of the spinal cord, leading to pain, numbness, and weakness. Airway stenosis can restrict breathing and be life-threatening. Most males have a normal life expectancy. Phenotypic variability has been seen within families, and no clear genotype-phenotype correlation has been established. A contiguous gene deletion including ARSE may result in additional features such as intellectual disability, vision loss, and heart defects.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):