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Atelosteogenesis type II

Orpha number ORPHA56304
Synonym(s) De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q77.5
OMIM
UMLS
  • C0432203
MeSH
  • C535395
MedDRA -
SNOMED CT
  • 254055004

Summary

Atelosteogenesis II is a perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Diagnosis can be established by performing a full skeletal survey. Patients are stillborn or die soon after birth. The disorder is infrequently reported. It shows autosomal recessive inheritance. Atelosteogenesis II results from mutations in the diastrophic dysplasia sulfate transporter gene (DTDST) and is pathogenetically related to the phenotypically milder diastrophic dysplasia and phenotypically more severe achondrogenesis type IB. DNA molecular prenatal diagnosis on first trimester chorionic villus samples is feasible in cases where the DTDST gene mutation has been identified.

Expert reviewer(s)

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

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Detailed information
Clinical genetics review
  • EN (2009)
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