Medicine:Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
From HandWiki
| Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | |
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| Specialty | Medical genetics |
| Symptoms | Minor physical anomalies |
| Complications | Grip, walking |
| Usual onset | Pre-natal |
| Duration | Life-long |
| Causes | Autosomal dominant genetic mutation |
| Diagnostic method | Physical examination, radiography |
| Prevention | none |
| Prognosis | Good |
| Frequency | Rare, 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
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Tibial hemimelia polysyndactyly triphalangeal thumb syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=988.
- ↑ "Absence of tibia with polydactyly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/8309/absence-of-tibia-with-polydactyly.
- ↑ "OMIM Entry - # 188740 - TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP" (in en-us). https://omim.org/entry/188740#29.
- ↑ Norbnop, Phatchara; Srichomthong, Chalurmpon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk (August 2014). "ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers" (in en). Journal of Human Genetics 59 (8): 467–470. doi:10.1038/jhg.2014.50. ISSN 1435-232X. PMID 24965254. https://www.nature.com/articles/jhg201450.
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