What is the life expectancy of someone with Floating-Harbor syndrome?

Floating-Harbor syndrome (FHS) is a rare genetic disorder that was first described in 1973 by Drs. Richard Floating and William Harbor. It is characterized by a distinct set of physical and developmental features. FHS is caused by mutations in the SRCAP gene, which plays a crucial role in normal growth and development.

One of the most prominent features of FHS is short stature. Individuals with FHS tend to have significantly shorter height compared to their peers. Additionally, they may have a delayed bone age, meaning their bones may develop at a slower rate than expected.

Facial dysmorphism is another hallmark of FHS. Individuals may have a triangular-shaped face with a prominent forehead, deep-set eyes, a broad nasal bridge, and a small chin. They may also have low-set ears and a short philtrum (the area between the nose and upper lip).

Individuals with FHS often experience speech and language delays. They may have difficulty with expressive language skills, such as forming sentences and articulating words. However, their receptive language skills, the ability to understand spoken language, are typically less affected.

Intellectual disability is common in individuals with FHS, although the severity can vary widely. Some individuals may have mild intellectual impairment, while others may have more significant cognitive challenges. It is important to note that intellectual disability does not define the potential or abilities of individuals with FHS.

While FHS can present with a range of medical issues, there is limited information available regarding the life expectancy of individuals with this syndrome. The available data suggests that individuals with FHS generally have a normal lifespan. However, it is important to consider that each case is unique, and the impact of FHS can vary from person to person.

Management of FHS involves a multidisciplinary approach to address the various challenges individuals may face. Early intervention and ongoing support are crucial in optimizing the development and well-being of individuals with FHS. This may include speech therapy, occupational therapy, educational support, and regular medical evaluations to monitor growth and address any associated medical conditions.

In conclusion, Floating-Harbor syndrome is a rare genetic disorder characterized by short stature, facial dysmorphism, speech and language delays, and intellectual disability. While the life expectancy of individuals with FHS is generally normal, it is important to provide appropriate support and interventions to optimize their overall development and well-being.