Recessive Dysplasy épiphysaire multiple

The multiple dysplasy épiphysaire is a rare genetic disease characterized by joint pains, malformations of the feet, hands and knees.

Other names of the disease

  • No known

Etiology

Change of the Gene SLC26A2 located on the Locus q32-q33.1 of the Chromosome 5

Incidence

Unknown factor

Description

The size of the individuals is very slightly lower than the average the disease appears mainly at the beginning of puberty by
  • Joint pains of the hips and the knees
  • Malformations of the feet, the hands and the knees
  • Scoliose
Half of the people reached have in more
  • Clinodactilie
  • labial Division
  • Rarement of the cysts of the house of the ear
  • Club-foot

Diagnosis

Private clinic

In addition to the clinical signs, osseous radiographies make it possible to find very evocative signs of pathology

Histology

Find the signs of absence of protéoglycanes sulfate in the cartilage. The defect of incorporation of the protéoglycanes sulfate can be highlighted by the culture of fibroblast

Genetics

  • in situ Hybridation by fluorescence allows the diagnosis in 90% of the cases by highlighting the three most frequent changes of the gene SLC26A2 .
  • sequential Analyze allows the diagnosis in 100% of the cases

Diseases genetically connected

Three other diseases (very of recessive autosomic transmissions) are in connection with changes of the gene SLC26A2

Differential diagnosis

In addition to the diseases which are in connection with the change of the gene SLC26A2 , the others dysplasies éphysaires multiple can be discutées

Prenatal diagnosis

Pregnancy with bottom risks

  • the echographic diagnosis is very difficult, only the existence of club-foot can draw the attention of the echographist

High-risk pregnancy

  • the diagnosis by in situ Hybridation by fluorescence is possible after biopsy of trophoblaste or Amniocentèse if the change is known in the parents although this disease does not affect the intelligence

Transmission mode

recessive autosomic Transmission

Sources

  • Site of information on the orphan rare diseases and drugs
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 226900 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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