Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata
Low levels of plasmalogens is a characteristic of rhizomelic chondrodysplasia punctata.
SpecialtyMedical genetics Edit this on Wikidata
SymptomsAlopecia, flat face[1]
CausesPEX7 gene, GNPAT gene and AGPS gene mutations[2]
Diagnostic methodClinical and radiologic finding[3]
TreatmentPhysical therapy[4]

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts.

The cause is a genetic mutation that results in low levels of plasmalogens, which are a type of lipid found in cell membranes throughout the body, but whose function is not known.[2]

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