Rhizomelic chondrodysplasia punctata

From Wikipedia, the free encyclopedia
Rhizomelic chondrodysplasia punctata
Plasmologen.svg
Low levels of plasmalogens is a characteristic of rhizomelic chondrodysplasia punctata.
SpecialtyMedical genetics Edit this on Wikidata
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[]

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. ^ a b "Rhizomelic chondrodysplasia punctata type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 January 2017.
  2. ^ a b c Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. Retrieved 2017-01-16.
  3. ^ a b c RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Rhizomelic chondrodysplasia punctata". www.orpha.net. Retrieved 23 January 2017.
  4. ^ a b c d e Braverman, Nancy E.; Moser, Ann B.; Steinberg, Steven J. (1 January 1993). "Rhizomelic Chondrodysplasia Punctata Type 1". GeneReviews. PMID 20301447. Retrieved 16 January 2017.update 2012
  5. ^ Brodsky, Michael C. (2016-06-28). Pediatric Neuro-Ophthalmology. Springer. p. 620. ISBN 9781493933846.
  6. ^ "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017.
  7. ^ "OMIM Entry - # 222765 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2". omim.org. Retrieved 16 January 2017.
  8. ^ "OMIM Entry - # 600121 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3". omim.org. Retrieved 2017-01-16.

Further reading[]

  • Benacerraf, Beryl (2007). Ultrasound of fetal syndromes (2nd ed.). Philadelphia: Churchill Livingstone / Elsevier. ISBN 978-0443066412. Retrieved 23 January 2017.
  • al.], [edited by] Kenneth F. Swaiman ... [et; Ashwal, Stephen; Ferriero, Donna M.; Schor, Nina F. (2012). Swaiman's pediatric neurology principles and practice (5th ed.). [Edinburgh]: Elsevier Saunders. ISBN 978-0323089111. Retrieved 23 January 2017. {{cite book}}: |first1= has generic name (help)

External links[]

Retrieved from ""