/thumb stiffness-brachydactyly-intellectual disability syndrome

thumb stiffness-brachydactyly-intellectual disability syndrome

Rare Disease

MONDO:0008563

Also Known As

Piussan-Lenaerts-Mathieu syndromeThumb ankylosis with intellectual disabilityThumb ankylosis with mental retardationthumb stiff brachydactyly intellectual disabilitythumb stiff brachydactyly mental retardationthumbs, STIFF, with brachydactyly type A1 and developmental delay

Definition

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.