Rhizomelic chondrodysplasia punctata
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.
| Rhizomelic chondrodysplasia punctata | |
|---|---|
| Low levels of plasmalogens is a characteristic of rhizomelic chondrodysplasia punctata. | |
| Specialty | Medical genetics |
| Symptoms | Alopecia, flat face |
| Causes | PEX7 gene, GNPAT gene and AGPS gene mutations |
| Diagnostic method | Clinical and radiologic finding |
| Treatment | Physical therapy |
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.
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