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Rhizomelic chondrodysplasia punctata

ORPHA177
Synonym(s) RCDP
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q77.3
OMIM
UMLS
  • C0282529
MeSH
  • D018902
MedDRA -

Summary

Disease definition

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth.

Epidemiology

Prevalence of the rhizomelic type is estimated at 1 in 100,000.

Clinical description

Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.

Etiology

The disease is caused by defective peroxisome metabolism. The majority of patients affected by this disease carry mutations in the PEX7 gene (6q21-q22.2) encoding the peroxisomal targeting signal 2 receptor which plays an important role in peroxisomal protein import. Other cases are due to mutations in the GNPAT gene (1q42) encoding dihydroxyacetone phosphate acyltransferase or in the AGPSgene (2q31) encoding peroxisomal alkyldihydroxyacetonephosphate synthase.

Diagnostic methods

Diagnosis is based on clinical and radiologic findings and can be confirmed by molecular analysis.

Differential diagnosis

The principle differential diagnosis is Zellweger syndrome (see this term).

Antenatal diagnosis

Prenatal diagnosis is feasible when the causative mutation has already been identified in the family.

Genetic counseling

The disease is transmitted in an autosomal recessive manner.

Management and treatment

There is no specific treatment for the enzyme defect.

Prognosis

Rhizomelic chondrodysplasia has a severe prognosis with death generally occurring during the first decade of life, mainly due to respiratory complications.

Expert reviewer(s)

  • Dr Martine LE MERRER

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Detailed information

Article for general public
Clinical genetics review
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