Rhizomelic chondrodysplasia punctata
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 abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts.

The cause is a genetic mutation that results in low levels of plasmalogens, which are a type of lipid found in cell membranes throughout the body, but whose function is not known.[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 involves a defect in PEX7, whose product is involved in peroxisome assembly. There are 3 pathways that depend on peroxisomal biogenesis factor 7 activities, including:[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

Treatment

Management of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people.[4]

Prognosis

The prognosis is poor in this condition,[3] and most children die before the age of 10.[4] However, some survive to adulthood, especially if they have a non-classical (mild) form of RCDP.[4]

Children with classical, or severe, RCDP1 have severe developmental disabilities. Most of them achieve early developmental skills, such as smiling, but they will not develop skills expected from a baby older than six months (such as feeding themselves or walking).[4] By contrast, children with non-classical mild RCDP1 often learn to walk and talk.[4]

See also

References

  1. 1 2 "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. 1 2 3 Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. Retrieved 2017-01-16.
  3. 1 2 3 "Rhizomelic chondrodysplasia punctata". Orphanet. Retrieved 23 January 2017.
  4. 1 2 3 4 5 6 7 8 9 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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