Chondrodysplasia Punctata, Rhizomelic

Synonyms

Chondrodysplasia Punctata, Rhizomelic Form

Chondrodysplasia Punctatas, Rhizomelic

Punctata, Rhizomelic Chondrodysplasia

Punctatas, Rhizomelic Chondrodysplasia

Rhizomelic Chondrodysplasia Punctata

Rhizomelic Chondrodysplasia Punctatas

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)