Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
(Redirected from Absence of tibia with polydactyly)
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]
| Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | |
|---|---|
 | |
| 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. |
References
edit- ^ 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) - ^ "Absence of tibia with polydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
- ^ "OMIM Entry - # 188740 - TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP". omim.org. Retrieved 2022-05-20.
- ^ 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.
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