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Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

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Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
SpecialtyMedical genetics
SymptomsMinor physical anomalies
ComplicationsGrip, walking
Usual onsetPre-natal
DurationLife-long
CausesAutosomal dominant genetic mutation
Diagnostic methodPhysical examination, radiography
Preventionnone
PrognosisGood
FrequencyRare, around 20 families worldwide are known to have the disorder to medical literature.

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone. Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals.[1][2] Only 19 affected families worldwide have been recorded in medical literature.[3] It is associated with a heterozygous base pair substitution of A to G in position 404–406, located on intron 5 in the LMBR1 gene.[4]

References

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  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Tibial hemimelia polysyndactyly triphalangeal thumb syndrome". www.orpha.net. Retrieved 2022-05-20.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "Absence of tibia with polydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
  3. ^ "OMIM Entry - # 188740 - TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP". omim.org. Retrieved 2022-05-20.
  4. ^ Norbnop, Phatchara; Srichomthong, Chalurmpon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk (August 2014). "ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers". Journal of Human Genetics. 59 (8): 467–470. doi:10.1038/jhg.2014.50. ISSN 1435-232X. PMID 24965254. S2CID 21552381.