46 Barber say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). it has been described in less than 20 patients in the medical literature. barber say syndrome has a variable presentation, with reports of both mild and severe cases. inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. a recent study suggests that at least some cases of barber say syndrome are caused by dominant mutations in the twist2 gene. treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.