Rhizomelic chondrodysplasia punctata
Recessive genetic condition / From Wikipedia, the free encyclopedia
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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.
Quick Facts Specialty, Symptoms ...
Rhizomelic chondrodysplasia punctata | |
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Low levels of plasmalogens is a characteristic of rhizomelic chondrodysplasia punctata. | |
Specialty | Medical genetics |
Symptoms | Alopecia, flat face[1] |
Causes | PEX7 gene, GNPAT gene and AGPS gene mutations[2] |
Diagnostic method | Clinical and radiologic finding[3] |
Treatment | Physical therapy[4] |
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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]