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Thumb stiffness-brachydactyly-intellectual disability syndrome
rareThumb 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.
- Identifiers
- MONDO:0008563 OMIM:188201Orphanet:1078
- Part of
- Congenital limb malformation
- Also known as
- Piussan-Lenaerts-Mathieu syndrome · Thumb ankylosis with intellectual disability · Thumb ankylosis with mental retardation · thumb stiff brachydactyly intellectual disability · thumb stiff brachydactyly mental retardation
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