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.[2]

Rhizomelic chondrodysplasia punctata
Low levels of plasmalogens is a characteristic of rhizomelic chondrodysplasia punctata.
SpecialtyMedical genetics 
SymptomsAlopecia, flat face[1]
CausesPEX7 gene, GNPAT gene and AGPS gene mutations[2]
Diagnostic methodClinical and radiologic finding[3]
TreatmentPhysical therapy[4]

Signs and symptoms

Rhizomelic chondrodysplasia punctata has the following symptoms:[4][1]

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.[2]

Pathophysiology
ACAA1

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:[4][5]

  • AGPS (catalyzes plasmalogen biosynthesis)
  • PhYH (catalyzes catabolism of phytanic acid)
  • ACAA1 (catalyzes beta-oxidation of VLCFA - straight)

Diagnosis
Peroxisome (this condition affects the peroxisome, causing peroxisome biogenesis disorders.)

The diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing[6] as well as radiography results, plus a physical examination of the individual.[3]

Types
  • Type 1 (RCDP1) is associated with PEX7 mutations; these are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.[4]
  • Type 2 (RCDP2) is associated with DHAPAT mutations [7]
  • Type 3 (RCDP3) is associated with AGPS mutations [8]

Treatment

Management of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people.[4] However, the prognosis is poor in this condition.[3]

See also

References
  1. "Rhizomelic chondrodysplasia punctata type 1". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. US National Library of Medicine. Retrieved 23 January 2017.
  2. Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. Retrieved 2017-01-16.
  3. "Rhizomelic chondrodysplasia punctata". Orphanet. Retrieved 23 January 2017.
  4. Braverman, Nancy E.; Moser, Ann B.; Steinberg, Steven J. (2020). "Rhizomelic Chondrodysplasia Punctata Type 1". GeneReviews. PMID 20301447. NBK1270.
  5. Brodsky, Michael C. (2016-06-28). Pediatric Neuro-Ophthalmology. Springer. p. 620. ISBN 9781493933846.
  6. "Rhizomelic chondrodysplasia punctata type 1". Genetics Testing Laboratory (GTR): Conditions. US National Library of Medicine. Retrieved 23 January 2017.
  7. Online Mendelian Inheritance in Man (OMIM): Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2 - 222765
  8. Online Mendelian Inheritance in Man (OMIM): Rhizomelic Chondrodysplasia Punctata, Type 3; RCDP3 - 600121

Further reading
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