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)

Annotation

a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

DUI

D018902 MeSH Browser

CUI

M0028265

Previous indexing

Chondrodysplasia Punctata (1971-1995)

History note

1996

Public note

1996