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Atelosteogenesis type II

Orpha number ORPHA56304
Synonym(s) Atelosteogenesis type 2
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 lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.


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Detailed information

Clinical genetics review
  • EN (2014)
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