Specialty medical genetics ICD-9-CM 277.86 DiseasesDB 31410 | ICD-10 Q77.3 OMIM 215100 222765 600121 MeSH D018902 | |
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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.
Contents
Signs/symptoms
In terms of the signs/symptoms of rhizomelic chondrodysplasia punctate one finds the following to be consistent with such a condition:
Genetics
This condition is a consequence of mutations in the PEX7 gene, GNPAT gene(which is located on chromosome 1) and AGPS gene, the condition is acquired in a 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 punctate can be based on genetic testing, as well as radiography results, plus an examination(physical) of the individual.
Types
Treatment
Management of rhizomelic chondrodysplasia punctate can include physical therapy, additionally orthopedic procedures improved function sometimes in affected people. However the prognosis is poor in this condition.