Orphanet: Thumb stiffness brachydactyly intellectual disability syndrome

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Thumb stiffness-brachydactyly-intellectual disability syndrome

Disease definition

A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.


Classification level: Disorder
  • 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: -
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