| Absent tibia-polydactyly-arachnoid cyst syndrome | |
|---|---|
| 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]
