Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM #302950], also known as brachytelephalangic chondrodysplasia punctata, have asymmetric shortening of the limbs, underdevelopment of the nasal cartilage, scoliosis, malalignment of the spine, short stature and mental retardation. Additional findings include ichthyosis in the newborn period and cataracts. Males are predominantly impacted, with carrier females typically not exhibiting symptoms or radiographic abnormalities. Mutations in the ARSE gene have been identified in 30-75% of patients with CDPX1. Patients with CDPX1 exhibit decreased levels of the aryl sulfatase enzyme, which is thought to be involved in cartilage and bone formation, although the exact mechanism remains unclear. The ARSE enzyme can also be inhibited by warfarin, and CDPX1 can exhibit a similar phenotype to that manifested in warfarin embryopathy.
Deletions and/or duplications involving the ARSE gene as causative of CDPX1 have been reported.