Rhizomelic chondrodysplasia punctata

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

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]

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

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

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. 1.0 1.1 "Rhizomelic chondrodysplasia punctata type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 24 January 2017. Retrieved 23 January 2017.
  2. 2.0 2.1 2.2 Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. Archived from the original on 2016-12-24. Retrieved 2017-01-16.
  3. 3.0 3.1 3.2 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Rhizomelic chondrodysplasia punctata". www.orpha.net. Archived from the original on 2 February 2017. Retrieved 23 January 2017.
  4. 4.0 4.1 4.2 4.3 4.4 Braverman, Nancy E.; Moser, Ann B.; Steinberg, Steven J. (1 January 1993). "Rhizomelic Chondrodysplasia Punctata Type 1". GeneReviews. PMID 20301447. Archived from the original on 18 January 2017. Retrieved 16 January 2017.update 2012
  5. Brodsky, Michael C. (2016-06-28). Pediatric Neuro-Ophthalmology. Springer. p. 620. ISBN 9781493933846. Archived from the original on 2021-08-29. Retrieved 2021-04-05.
  6. "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 8 February 2017. Retrieved 23 January 2017.
  7. "OMIM Entry - # 222765 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2". omim.org. Archived from the original on 15 February 2020. Retrieved 16 January 2017.
  8. "OMIM Entry - # 600121 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3". omim.org. Archived from the original on 2020-02-15. Retrieved 2017-01-16.

Further reading

External links

Classification
External resources