Absent tibia-polydactyly-arachnoid cyst syndrome
| Absent tibia-polydactyly-arachnoid cyst syndrome | |
|---|---|
| Other names | Holmes-Collins syndrome |
 | |
| 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
[edit]- ^ "Mandibulofacial Dysostosis (Treacher Collins Syndrome) Clinical Presentation: Physical, Causes". emedicine.medscape.com. Retrieved 2022-05-31.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Holmes Collins syndrome". www.orpha.net. Retrieved 2022-05-31.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Tibia absent polydactyly arachnoid cyst". Global Genes. Retrieved 2022-05-31.
- ^ "Tibia absent polydactyly arachnoid cyst - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-31.
- ^ "OMIM Entry - 601027 - TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES". omim.org. Retrieved 2022-05-31.
- ^ 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". Journal of Medical Genetics. 32 (11): 896–900. doi:10.1136/jmg.32.11.896. ISSN 0022-2593. PMC 1051745. PMID 8592337.
- ^ 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. PMC 1051745. PMID 8592337.
External links
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