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Holt-Oram syndrome

Disease definition

A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.


Classification level: Disorder
  • Synonym(s):
    • Atriodigital dysplasia type 1
    • HOS
    • Heart-hand syndrome type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • OMIM: 142900
  • UMLS: C0265264
  • MeSH: C535326
  • GARD: 6666
  • MedDRA: 10050469

Detailed information

Article for general public


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