Calcifying Chondrodystrophie congenital

The congenital chondrodystrophie calcifying is a secondary Ostéochondrodysplasie with a qualitative deficit enzymatic implied in the synthesis of the Cholestérol

Other names

  • Syndrome of Conradi-Hünermann
  • Chondrodysplasie punctuated dominant related to X
  • Calcinosis universalis
  • Syndrome of Happle

Etiology

  • Change of the Gene EBP situèe with the Locus p11.23-p11.22 of the Chromosome X coding the 3-beta-hydroxysteroide-delta (8), delta (7) - isomérase

Incidence & Prevalence

Description

  • anomalies of development of the long bones
  • deformation of the large articulations
  • malformations of the feet
  • bulky cranium
  • possibility of visceral attacks (rare): cardiopathies, cataract…)
  • inconstant cutaneous symptoms: ichtyose, naevi vascular…

Diagnosis

Private clinic

Biological

Genetics

Differential diagnosis

Treatment

Transmission mode

The genetic Council

Family of a patient

Antenatal tracking

Sources

  • Site in French of information on the orphan rare diseases and drugs
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 302960

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