Chondrodysplasia punctata Q77.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 28.01.2022

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Synonym(s)

Chondrodysplasia punctata Rhizomeler type; RCDP; Rhizomeel type of chondrodysplasia punctata; Rhizomelic chondrodysplasia punctata

Definition
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Autosomal recessive hereditary, lethal, peroxisomal disease with characteristic phenotype. Biochemical increase of phytanic acid in plasma, decreased synthesis of plasmalogen and defective oxidation of phytanic acid in fibroblasts.

Etiopathogenesis
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Predominantly autosomal recessive inherited gene mutations that consecutively impair various peroxisomal functions. Most patients have partial defects in acyl-CoA dihydroxyacetone phosphate acyltransferase (RDCP type 2), impaired plasmalogen biosynthesis, impaired phytanate degradation, and delayed maturation of peroxisomal 3-oxoacyl-CoA thiolase. Several gene loci have been described, with defects associated with different subtypes of the disease.

  • RCDP type 1: mutations of peroxisomal biogenesis factor-7(PEX7 gene; gene locus: 6q22-q24).
  • RCDP type 2: mutations of the glyceronephosphate O-acyltransferase gene (GNPAT gene; gene locus: Chr. 1).
  • RCDP type 3: mutations of the alkylglycerone-phosphate synthase gene (AGPS gene; gene locus: 2q31).

Clinical features
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Rhizomelous malformation, bilaterally symmetrical cataracts, ichthyosiform skin lesions. Death often in the first year of life after lack of psychomotor development.

Literature
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  1. Heymans HSA, Oorthuys JWE, Nelck G et al (1986) Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata. J Owner Metab Dis 9 Suppl 2: 329-331
  2. Lightwood RC (1930/31) Congenital deformities with stippled epiphyses and congenital cataract. Proc Roy Soc Med 24: 564-566
  3. White AL et al (2003) Natural history of rhizomelic chondrodysplasia punctata. At J Med Genet 118A: 332-342

Outgoing links (1)

PEX7 Gene;

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Last updated on: 28.01.2022