Rubinstein-Taybi syndrome

external

• Synonyms

  • Broad thumb-hallux syndrome

• Effects

  • Mental retardation
  • Short stature
  • Broad thumb
  • Broad first toe
  • Nasopharyngeal carcinoma
  • Low-set ears

• Parents

  • Autosomal dominant disorder

• Description

  • "Survive only into early childhood. Mutation in CREBBP gene. Risk of developing benign and malignant tumours."