E71.540

Approximate Synonyms

• Rhizomelic chondrodysplasia punctata syndrome

Clinical Information

• An autosomal recessive form of chondrodysplasia punctata characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. from scriver et al, metabolic basis of inherited disease, 6th ed, p1497)

• An autosomal recessive inherited peroxisomal disorder caused by mutations in the pex7, dhapat, and agp genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.

Details

• E71.540 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E71.540 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E71.540 – other international versions of ICD-10 E71.540 may differ.