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Thumb stiffness-brachydactyly-intellectual disability syndrome

Disease definition

Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.

ORPHA:1078

  • Synonym(s):
    • Piussan-Lenaerts-Mathieu syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.2
  • OMIM: 188201
  • UMLS: C2931515
  • MeSH: C537511
  • GARD: 4375
  • MedDRA: -

Additional information

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