Rhizomelic chondrodysplasia punctata

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.
Signs and symptoms.
Rhizomelic chondrodysplasia punctata has the following symptoms:
Genetics.
This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner.
Pathophysiology.
The mechanism of rhizomelic chondrodysplasia punctata in the case of "type 1" of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. There are 3 pathways that "count on" PEX7 and are:
Diagnosis.
The diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing as well as radiography results, plus a physical examination of the individual.
Treatment.
Management of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people. However, the prognosis is poor in this condition.