Rhizomelic chondrodysplasia punctata
| Rhizomelic chondrodysplasia punctata | |
|---|---|
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| Low levels of plasmologen is a characteristic of Rhizomelic chondrodysplasia punctata | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q77.3 |
| ICD-9-CM | 277.86 |
| OMIM | 215100 222765 600121 |
| DiseasesDB | 31410 |
| MeSH | D018902 |
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.
In terms of the signs/symptoms of rhizomelic chondrodysplasia punctate one finds the following to be consistent with such a condition:
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
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:
The diagnosis of rhizomelic chondrodysplasia punctate can be based on genetic testing , as well as radiography results, plus an examination(physical) of the individual.
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.
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