Medicine:Absent tibia-polydactyly-arachnoid cyst syndrome
| Absent tibia-polydactyly-arachnoid cyst syndrome | |
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| Other names | Holmes-Collins syndrome |
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| Specialty | Medical genetics |
Absent tibia-polydactyly-arachnoid cyst syndrome, also known as Holmes-Collins syndrome, is a very rare multi-systemic hereditary disorder which is characterized by facial dysmorphisms,[1] pre/post-axial polydactyly, toe syndactyly, missing/underdeveloped tibia bone, and the presence of a retrocerebellar arachnoid cyst.[2][3][4] Additional findings include clubbed feet, cleft lip, diaphragm agenesis, and radial and ulnar anomalies.[5]
It was first discovered in 1995 by Holmes et al., when they described three siblings (one male and two females) born to consanguineous, first cousin once removed[6] parents with the symptoms mentioned above (including the additional ones), Holmes et al. did not find abnormalities in the HOXD10, HOXA9, and HOXC9 genes. They concluded this was part of a brand new (novel) autosomal recessive syndrome.[7]
References
- ↑ "Mandibulofacial Dysostosis (Treacher Collins Syndrome) Clinical Presentation: Physical, Causes". https://emedicine.medscape.com/article/946143-clinical.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Holmes Collins syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2953&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3328&Disease(s)/group%20of%20diseases=Holmes-Collins-syndrome&title=Holmes-Collins-syndrome&search=Disease_Search_Simple.
- ↑ "Tibia absent polydactyly arachnoid cyst" (in en-US). https://globalgenes.org/disease/tibia-absent-polydactyly-arachnoid-cyst/.
- ↑ "Tibia absent polydactyly arachnoid cyst - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst.
- ↑ "OMIM Entry - 601027 - TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES" (in en-us). https://omim.org/entry/601027.
- ↑ Holmes, L. B.; Redline, R. W.; Brown, D. L.; Williams, A. J.; Collins, T. (1995-11-01). "Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder." (in en). Journal of Medical Genetics 32 (11): 896–900. doi:10.1136/jmg.32.11.896. ISSN 0022-2593. PMID 8592337. PMC 1051745. https://jmg.bmj.com/content/32/11/896.
- ↑ Holmes, L. B.; Redline, R. W.; Brown, D. L.; Williams, A. J.; Collins, T. (November 1995). "Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder". Journal of Medical Genetics 32 (11): 896–900. doi:10.1136/jmg.32.11.896. ISSN 0022-2593. PMID 8592337.
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