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.
MONDO:0019054
congenital limb malformation
is_a
Piussan-Lenaerts-Mathieu syndrome
exact
Thumb ankylosis with intellectual disability
related
Thumb ankylosis with mental retardation
related
thumb stiff brachydactyly intellectual disability
related
thumb stiff brachydactyly mental retardation
related