Rhizomelic chondrodysplasia punctata (RCDP): clinical features

Evidence-based neurology checklist on rhizomelic chondrodysplasia punctata (rcdp): clinical features: 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…

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

Dysmorphic features

Skeletal features

Epileptic features

Other features

References

  1. 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.
  2. 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.
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