Thumb stiffness-brachydactyly-intellectual disability syndrome

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.[3][4]

Thumb stiffness-brachydactyly-intellectual disability syndrome
Other namesStiff thumbs-brachydactyly-mental retardation,[1] Piussan-Lenaerts-Mathieu syndrome[2]
SpecialtyMedical genetics
SymptomsMinor physical anomalies and intellectual disabilities
ComplicationsUsually, none
Usual onsetBirth
DurationLife-long
CausesGenetic mutation
Preventionnone
PrognosisGood
Frequencyvery rare, only two families known to have the disorder to medical literature

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.[5][6][7]

References
  1. "Thumb stiffness-brachydactyly-intellectual disability syndrome". 16 June 2022.
  2. https://rarediseases.oscar.ncsu.edu/disease/thumb-stiffness-brachydactyly-intellectual-disability-syndrome/about/
  3. "Orphanet: Thumb stiffness brachydactyly intellectual disability syndrome". www.orpha.net. Retrieved 2022-05-13.
  4. "Thumb stiffness-brachydactyly-intellectual disability syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-13.
  5. "OMIM Entry - 188201 - THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY". omim.org. Retrieved 2022-05-13.
  6. "Thumb stiffness-brachydactyly-intellectual disability syndrome". Rare Disease InfoHub. 2022-05-13.
  7. "Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay". MalaCards. Retrieved 2022-05-13.
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