X-linked recessive chondrodysplasia punctata 1

Etiology

• genetic disorder
• induced by inhibition of ARSE with warfarin

Pathology

• congenital defect of bone & cartilage development
• aberrant bone mineralization
• severe underdevelopment of nasal cartilage
• distal phalangeal hypoplasia

Genetics

• associated with defects in ARSE

More general terms

• osteochondrodysplasia

Database

• OMIM: https://mirror.omim.org/entry/302950