Thumb stiffness-brachydactyly-intellectual disability syndrome explained

Thumb stiffness-brachydactyly-intellectual disability syndrome
Synonyms:	Stiff thumbs-brachydactyly-mental retardation,^[1] Piussan-Lenaerts-Mathieu syndrome
Complications:	Usually, none
Onset:	Birth
Duration:	Life-long
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.^{[2] [3]}

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.^{[4] [5] [6]}

Notes and References

1. Web site: Thumb stiffness-brachydactyly-intellectual disability syndrome. 16 June 2022. 13 May 2022. 13 May 2022. https://web.archive.org/web/20220513211323/https://rarediseases.org/gard-rare-disease/thumb-stiffness-brachydactyly-intellectual-disability-syndrome/. live.
2. Web site: Orphanet: Thumb stiffness brachydactyly intellectual disability syndrome . 2022-05-13 . www.orpha.net . en . 2022-05-18 . https://web.archive.org/web/20220518173019/https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 . live .
3. Web site: Thumb stiffness-brachydactyly-intellectual disability syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-13 . rarediseases.info.nih.gov . en . 2021-04-19 . https://web.archive.org/web/20210419002928/https://rarediseases.info.nih.gov/diseases/5200/thumb-stiffness-brachydactyly-intellectual-disability-syndrome . dead .
4. Web site: OMIM Entry - 188201 - THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY . 2022-05-13 . omim.org . en-us.
5. Web site: 2022-05-13 . Thumb stiffness-brachydactyly-intellectual disability syndrome . Rare Disease InfoHub .
6. Web site: Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay . 2022-05-13 . MalaCards.