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Rubinstein-Taybi syndrome

Disease definition

Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.

ORPHA:783

  • Synonym(s):
    • Broad thumb-hallux syndrome
    • Broad thumbs-halluces syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Unknown 
  • Age of onset: All ages
  • ICD-10: Q87.2
  • OMIM: 180849  610543  613684
  • UMLS: C0035934
  • MeSH: D012415
  • GARD: 7593
  • MedDRA: 10039281

Detailed information

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