See what questions
a doctor would ask.
Chondrodysplasia Punctata, Rhizomelic: 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).
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Chondrodysplasia Punctata, Rhizomelic:
Search to find out more about Chondrodysplasia Punctata, Rhizomelic:
Search Specialists by State and City