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Triphalangeal thumbs-brachyectrodactyly syndrome

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Medical condition
Triphalangeal thumbs-brachyectrodactyly syndrome
SpecialtyMedical genetics
SymptomsDistal limb anomalies
ComplicationsGrip, walking
Usual onsetBirth
DurationLifelong
CausesGenetic mutation
PreventionNone
TreatmentCorrective surgery
PrognosisGood
Frequencyvery 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. Onychodystrophy and anonychia are also seen often. 27 cases from seven families from Mexico and the United States have been described in medical literature. It is inherited in an autosomal dominan manner and thought to be caused by mutations in the HOXD13 gene, in chromosome 2.

References

  1. "OMIM Entry - % 190680 - TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY". omim.org. Retrieved 2022-06-14.
  2. 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)
  3. "Triphalangeal thumbs brachyectrodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-14.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
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