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Atelosteogenesis type II

Disease definition

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.

ORPHA:56304

  • 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: Infancy, Neonatal
  • ICD-10: Q77.5
  • OMIM: 256050
  • UMLS: C0432203
  • MeSH: C535395
  • GARD: 8329
  • MedDRA: -

Detailed information

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