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Absent tibia-polydactyly-arachnoid cyst syndrome

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]

Absent tibia-polydactyly-arachnoid cyst syndrome
Other namesHolmes-Collins syndrome
SpecialtyMedical genetics

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

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  1. ^ "Mandibulofacial Dysostosis (Treacher Collins Syndrome) Clinical Presentation: Physical, Causes". emedicine.medscape.com. Retrieved 2022-05-31.
  2. ^ 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)
  3. ^ "Tibia absent polydactyly arachnoid cyst". Global Genes. Retrieved 2022-05-31.
  4. ^ "Tibia absent polydactyly arachnoid cyst - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-31.
  5. ^ "OMIM Entry - 601027 - TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES". omim.org. Retrieved 2022-05-31.
  6. ^ 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.
  7. ^ 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.
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