Triphalangeal thumbs-brachyectrodactyly syndrome
(Redirected from Carnevale Hernandez Castillo syndrome)
| 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
[edit]- ^ "OMIM Entry - % 190680 - TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY". omim.org. Retrieved 2022-06-14.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Triphalangeal thumbs brachyectrodactyly syndrome". www.orpha.net. Retrieved 2022-06-14.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Triphalangeal thumbs brachyectrodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-14.
- ^ 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. S2CID 39520659.
- ^ 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. S2CID 27690803.
- ^ 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. S2CID 31635452.
- ^ 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. S2CID 44539740.
- ^ 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. S2CID 41589430.
- ^ 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. S2CID 44539740.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |