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Atelosteogenesis type II

Disease definition

A rare, 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

Classification level: Disorder
  • Synonym(s):
    • AO2
    • AOII
    • 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  C1850554  C1850555
  • MeSH: C535395
  • GARD: 8329
  • MedDRA: -

Detailed information

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