What is Floating-Harbor syndrome

Floating-Harbor syndrome is a rare genetic disorder characterized by a distinct set of physical and developmental features. It was first described in 1973 and has since been identified in individuals from various ethnic backgrounds.

The most prominent feature of Floating-Harbor syndrome is short stature, with affected individuals typically being significantly shorter than their peers. Other common physical characteristics include a triangular-shaped face with a prominent nose, wide-set eyes, and a thin upper lip.

Individuals with Floating-Harbor syndrome may also experience delayed speech development and intellectual disability, although the severity can vary widely. Some affected individuals may have normal intelligence or only mild cognitive impairment.

Floating-Harbor syndrome is caused by mutations in the SRCAP gene, which plays a role in regulating gene expression. It is typically inherited in an autosomal dominant manner, meaning that a mutation in only one copy of the gene is sufficient to cause the disorder.

While there is currently no cure for Floating-Harbor syndrome, management focuses on addressing the individual's specific symptoms and providing support for developmental delays. Early intervention programs, speech therapy, and educational support can greatly improve the quality of life for individuals with this condition.