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Atelosteogenesis type III

Orpha number ORPHA56305
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q78.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Atelosteogenesis III (AOIII, incomplete ossification) is a short limb skeletal dysplasia, with dysmorphic facies and diagnostic radiographic findings. Recurrent respiratory insufficiency (tracheobronchomalacia) and/or infections usually result in early death. It is a very infrequently described disorder. Atelosteogenesis III results from heterozygous mutations in the gene encoding filamin B (FLNB). All cases of this autosomal dominant disorder are sporadic. The diagnosis is established after full skeletal survey is performed. Antenatal diagnosis can be achieved by ultrasound.

Expert reviewer(s)

  • Pr Kazimierz KOZLOWSKI
  • Pr David SILLENCE
Last update: November 2004

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Detailed information
Clinical genetics review
  • EN (2008)
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