Rhizomelic chondrodysplasia punctata (RCDP): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Rhizomelic chondrodysplasia punctata (RCDP): clinical features. RCDP type 1 is caused by mutations in the PEX7 gene on chromosome 6.
Genetics
- RCDP type 1 is caused by mutations in the PEX7 gene on chromosome 6
- RCDP type is caused by mutations in the GNPAT (DHAPAT) gene on chromosome 1
- RCDP type 3 is caused by mutations in the AGPS gene on chromosome 2
- The transmission is autosomal recessive
- The mutations cause impaired plasmalogen biosynthesis
- This results in high phytanic acid levels
Developmental features
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Dysmorphic features
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Skeletal features
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Epileptic features
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Other features
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References
- Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 2013; 8:174.
- Bams-Mengerink AM, Majoie CB, Duran M, et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 2006; 66:798-803.
