Syndrome of Ellis-Van Creveld

The syndrome of Ellis-Van Creveld is a Syndrome which associate clinically a Nanisme dysharmonieux especially reaching the Jambe S and the Avant-bras, the presence of more than five Doigt S, the anomalies of the Ongle S and the Dent S and a cardiac malformation often of atrio-ventricular channel type or single auricle.

The old terms chondro-ectodermal dysplasy or mesoectodermic dysplasy do not reflect the totality of the bodies reached by the change of the gene EVC .

The king Richard III of England was most probably reached by this pathology.

Incidence

  • Reaches the two sexes.
  • the incidence is from approximately 1 on 60  000 births.
  • 13% of the population Amish of Pennsylvania would be carrying mutant gene EVC what would explain the very great frequency of this syndrome (1 out of 5000 births) in this population because of the unions being done only inside this group.
  • the Australian aboriginals are also reached by this pathology since it reaches 1 birth out of 6000 in this ethnos group.

Etiology

Description

  • obvious Nanisme with the birth, adults measuring between 109 and 152 centimetres.
  • the cranium is normal. There exist anomalies of the teeth or gums. The thorax is narrow.
  • the Polydactylie is known as post-axial. It reaches the hands and the feet.
  • the lower extremities are deformed in Genu valgum and the club-feet.
  • the boys often present anomalies of the external genitals.
  • the cardiac malformations are very frequent.
  • the intelligence is generally normal.

Differential diagnosis

Principal the differential diagnoses is:
  • Syndrome of Young person
  • Achondroplasie

Diagnosis anténatal

The suspicion of osseous dysplasy is possible on fetal biometrics and in the event of observation of cardiac malformations with Polydactylie.

The genetic Council

The disease tranmettant on a recessive autosomic Mode, it is thus more frequent in the event of Consanguinité. It appears only when the Fœtus is carrying two genes. The risk of recurrence is thus of 25% in the event of pregnancy at a couple having already a child reached by this pathology. The fetuses hétérozygotes generally have like supernumerary demonstration only one finger.

Mode of transmission

recessive autosomic Transmission

Sources

  • Site on the rare diseases
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 225500

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