Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens.
Rhizomelic chondrodysplasia punctata has the following symptoms:
Bilateral shortening of the femur
Post-natal growth problems (deficiency)
Possible infections of respiratory tractRead more in Wikipedia
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