Thumb stiffness-brachydactyly-intellectual disability syndrome

Thumb stiffness-brachydactyly-intellectual disability syndrome
Other names	Stiff thumbs-brachydactyly-mental retardation, Piussan-Lenaerts-Mathieu syndrome
Specialty	Medical genetics
Symptoms	Minor physical anomalies and intellectual disabilities
Complications	Usually, none
Usual onset	Birth
Duration	Life-long
Causes	Genetic mutation
Prevention	none
Prognosis	Good
Frequency	very rare, only two families known to have the disorder to medical literature

Thumb stiffness-brachydactyly-intellectual disability syndrome is a very rare genetic disorder which is characterized by thumb ankylosis due to symphalangism, brachydactyly type A, intellectual disabilities, mild facial dysmorphia and variable levels of obesity.

Etimology

It was discovered when Piussan et al. described a three-generation family with various affected females in 1983, these females were reported to have "mental retardation, stiff thumbs, and brachydactyly type A2". Although C. Lewis symphalangism was suspected, it was clear that these symptoms were part of a new entity. A second isolated case was reported in 1990, by Barber et al., describing stiff thumbs and developmental delay. The suspected mode of inheritance of this disorder is autosomal dominant.