Absent tibia-polydactyly-arachnoid cyst syndrome

Medical condition

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]

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.

## External links

[edit]

Classification|

* OMIM: 601027
* MeSH: C536918
* SNOMED CT: 733068001

|

External resources|

* Orphanet: 3328
* Scholia: Q55782897

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

|

* v
* t
* e

*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template