Thumb stiffness-brachydactyly-intellectual disability syndrome

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.

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, thumbs, STIFF, with brachydactyly type A1 and developmental delay

1 clinical trial for this condition and its sub-types, 0 tagged with Thumb stiffness-brachydactyly-intellectual disability syndrome itself.