Floating-Harbor syndrome is a rare genetic disorder that is characterized by a distinct set of physical and developmental features. It was first described in 1973 by Dr. Richard J. Floating and Dr. William G. Harbor, hence the name. This syndrome is also known by several other names, including Floating-Harbor syndrome-like, FHS, and Short stature, speech delay, and distinctive facies syndrome.
Individuals with Floating-Harbor syndrome typically have a short stature that becomes apparent in early childhood. They may also exhibit delayed speech development, which can range from mild to severe. The distinctive facial features associated with this syndrome include a triangular-shaped face with a broad forehead, deep-set eyes, a short nose with a bulbous tip, and a wide mouth with a thin upper lip.
Other common features of Floating-Harbor syndrome include mild to moderate intellectual disability, low muscle tone (hypotonia), and delayed bone age. Some individuals may also experience feeding difficulties in infancy, hearing loss, and recurring ear infections. While the severity of symptoms can vary, most individuals with Floating-Harbor syndrome have normal lifespan and do not experience progressive deterioration of their condition.
Floating-Harbor syndrome is caused by mutations in the SRCAP gene, which plays a crucial role in normal growth and development. These mutations are typically de novo, meaning they occur spontaneously and are not inherited from parents. Genetic testing can confirm the diagnosis of Floating-Harbor syndrome.
Management of Floating-Harbor syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. Early intervention programs can help with speech and language development, while physical and occupational therapies can assist with motor skills and muscle tone. Regular monitoring of growth and development, as well as addressing any associated medical issues, is important for optimal management of this syndrome.