Medicine:Triphalangeal thumbs-brachyectrodactyly syndrome
From HandWiki
| Triphalangeal thumbs-brachyectrodactyly syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | Distal limb anomalies |
| Complications | Grip, walking |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Treatment | Corrective surgery |
| Prognosis | Good |
| Frequency | very rare, only 27 cases from seven families have been described in medical literature. it seems to be more common in Mexico. |
Triphalangeal thumbs-brachyectrodactyly syndrome is a very rare limb malformation syndrome of genetic origin which is characterized by polydactyly, syndactyly, brachydactyly, ectrodactyly, triphalangeal thumb and polyphalangism.[1][2][3] Onychodystrophy and anonychia are also seen often. 27 cases from seven families from Mexico and the United States have been described in medical literature.[4][5][6][7][8] It is inherited in an autosomal dominan manner and thought to be caused by mutations in the HOXD13 gene, in chromosome 2.[9]
References
- ↑ "OMIM Entry - % 190680 - TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY" (in en-us). https://omim.org/entry/190680?search=prefix:%25&highlight=%25#3.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Triphalangeal thumbs brachyectrodactyly syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2947.
- ↑ "Triphalangeal thumbs brachyectrodactyly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/5290/triphalangeal-thumbs-brachyectrodactyly.
- ↑ Carnevale, A.; Hernández, M.; del Castillo, V.; Torres, P. (1980-10-01). "A new syndrome of triphalangeal thumbs and brachy-ectrodactyly". Clinical Genetics 18 (4): 244–252. doi:10.1111/j.1399-0004.1980.tb00881.x. ISSN 0009-9163. PMID 7438506. https://pubmed.ncbi.nlm.nih.gov/7438506/.
- ↑ Silengo, M. C.; Biagioli, M.; Bell, G. L.; Bona, G.; Franceschini, P. (1987-01-01). "Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance". Clinical Genetics 31 (1): 13–18. doi:10.1111/j.1399-0004.1987.tb02761.x. ISSN 0009-9163. PMID 3568429. https://pubmed.ncbi.nlm.nih.gov/3568429/.
- ↑ Zenteno, J. C.; Aguinaga, M.; Chávez, V.; Sastré, N.; Rivera, M. R.; Kofman-Alfaro, S. (1996-09-01). "Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution". Clinical Genetics 50 (3): 152–155. doi:10.1111/j.1399-0004.1996.tb02371.x. ISSN 0009-9163. PMID 8946115. https://pubmed.ncbi.nlm.nih.gov/8946115/.
- ↑ Pérez-Cabrera, A.; Kofman-Alfaro, S.; Zenteno, J. C. (2002-09-01). "Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome". Journal of Orthopaedic Research 20 (5): 899–901. doi:10.1016/S0736-0266(02)00008-6. ISSN 0736-0266. PMID 12382951.
- ↑ Brown, Alaina M.; Romness, Mark; Dong, Danielle A.; Kelly, Thaddeus E. (2008-11-01). "Triphalangeal thumbs with brachyectrodactyly: a sporadic case". American Journal of Medical Genetics. Part A 146A (21): 2835–2836. doi:10.1002/ajmg.a.32464. ISSN 1552-4833. PMID 18924168. https://pubmed.ncbi.nlm.nih.gov/18924168/.
- ↑ Pérez-Cabrera, A.; Kofman-Alfaro, S.; Zenteno, J. C. (2002-09-01). "Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb—brachyectrodactyly syndrome" (in en). Journal of Orthopaedic Research 20 (5): 899–901. doi:10.1016/S0736-0266(02)00008-6. ISSN 0736-0266. PMID 12382951.
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