Mike Harcourt

The osseous dysplasies in connection with gene SOST are demonstrations secondary with an exaggerated production of bone tissue by the Ostéoblaste. The major clinical signs are the excessive growth of the skeleton and the existence of Syndactylie usually between the index and the Majeur.
The two diseases known by in connection with gene SOST are the Maladie of Van Buchem and the Sclérostéose.
With the birth, only the existence of syndactylie is noted with sometimes nails anormaux.
The osseous demonstrations appear around five years and reach especially the face. Vascular and nervous compressions reaching cranium especially potentially make the gravity of this disease with appearance of an intracranial hypertension létale.
The manifestations of the disease of Van Buchen are less serious than the sclérostéose. The syndactylie exists only in the sclérostéose.

Other names

  • Hyperostose cortical generalized
  • Hyperostose cortical syndactylie

Etiology

Van Buchen
  • the genetic anomalies do not seem to reach even gene SOST directly but an area measuring 52000 basic located under gene SOST
Sclérostéose
  • Change of the Gene SOST located on the locus q12-q21 of the Chromosome 17 coding the sclérostine. Four changes are known.

Incidence &Prévalence

The sclérostéose reaches especially the population afrikaner of South Africa
The disease of Van Buchem is especially localized in Holland

Description

Diagnosis

The clinical characteristics as well as the radiographic examinations make the diagnosis of these diseases.

The genetic Council

Transmission

recessive autosomic Transmission.

Risk for the family

The risk is that of any genetic disease with recessive autosomic Transmission.

Diagnosis anténatal

Sources

  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 269500 * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 239100 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005]
SOST
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