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Thumb stiffness - brachydactyly - intellectual disability

Orpha number ORPHA1078
Synonym(s) Piussan-Lenaerts-Mathieu syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • Q87.2
ICD-O -
OMIM
UMLS
  • C2931515
MeSH
  • C537511
MedDRA -

Summary

This 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.


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