Absent tibia-polydactyly-arachnoid cyst syndrome

{{Infobox medical condition

|name = Absent tibia-polydactyly-arachnoid cyst syndrome

|synonyms = Holmes-Collins syndrome

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|specialty = Medical genetics

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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,{{Cite web |title=Mandibulofacial Dysostosis (Treacher Collins Syndrome) Clinical Presentation: Physical, Causes |url=https://emedicine.medscape.com/article/946143-clinical |access-date=2022-05-31 |website=emedicine.medscape.com}} pre/post-axial polydactyly, toe syndactyly, missing/underdeveloped tibia bone, and the presence of a retrocerebellar arachnoid cyst.{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Holmes Collins syndrome |url=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 |access-date=2022-05-31 |website=www.orpha.net |language=en}}{{Cite web |title=Tibia absent polydactyly arachnoid cyst |url=https://globalgenes.org/disease/tibia-absent-polydactyly-arachnoid-cyst/ |access-date=2022-05-31 |website=Global Genes |language=en-US}}{{Cite web |title=Tibia absent polydactyly arachnoid cyst - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst |access-date=2022-05-31 |website=rarediseases.info.nih.gov |language=en}} Additional findings include clubbed feet, cleft lip, diaphragm agenesis, and radial and ulnar anomalies.{{Cite web |title=OMIM Entry - 601027 - TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES |url=https://omim.org/entry/601027 |access-date=2022-05-31 |website=omim.org |language=en-us}}

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{{Cite journal |last1=Holmes |first1=L. B. |last2=Redline |first2=R. W. |last3=Brown |first3=D. L. |last4=Williams |first4=A. J. |last5=Collins |first5=T. |date=1995-11-01 |title=Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder. |url=https://jmg.bmj.com/content/32/11/896 |journal=Journal of Medical Genetics |language=en |volume=32 |issue=11 |pages=896–900 |doi=10.1136/jmg.32.11.896 |issn=0022-2593 |pmid=8592337|pmc=1051745 }} 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.{{Cite journal |last1=Holmes |first1=L. B. |last2=Redline |first2=R. W. |last3=Brown |first3=D. L. |last4=Williams |first4=A. J. |last5=Collins |first5=T. |date=November 1995 |title=Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder |journal=Journal of Medical Genetics |volume=32 |issue=11 |pages=896–900 |doi=10.1136/jmg.32.11.896 |issn=0022-2593 |pmc=1051745 |pmid=8592337}}