Which are the symptoms of Floating-Harbor syndrome?

Symptoms of Floating-Harbor Syndrome

Floating-Harbor syndrome (FHS) is a rare genetic disorder that affects various parts of the body. It is characterized by a distinct facial appearance, growth delays, and intellectual disability. While the severity of symptoms can vary among individuals, there are several key features commonly associated with this syndrome.

Facial Features

One of the most recognizable characteristics of Floating-Harbor syndrome is the distinct facial appearance. Individuals with FHS often have a triangular-shaped face with a broad forehead and a pointed chin. They may also have deep-set eyes, a wide nasal bridge, a short nose, and a thin upper lip. These facial features can be helpful in identifying the syndrome.

Growth Delays

Growth delays are a common feature of Floating-Harbor syndrome. Children with FHS tend to have slow growth both before and after birth. They may be smaller than their peers and have a shorter stature. Additionally, individuals with FHS may have delayed bone age, which means their bones may appear younger than their chronological age.

Speech and Language Difficulties

Many individuals with Floating-Harbor syndrome experience speech and language difficulties. They may have delayed speech development and struggle with articulation, making it difficult for others to understand them. Some individuals may also have a limited vocabulary and difficulty with expressive language.

Intellectual Disability

Intellectual disability is a common feature of Floating-Harbor syndrome, although the severity can vary. Individuals with FHS may have mild to moderate intellectual disability, which can impact their learning abilities and overall cognitive function. It is important to note that intellectual disability does not define a person's potential, and with appropriate support, individuals with FHS can lead fulfilling lives.

Skeletal Abnormalities

Floating-Harbor syndrome can also affect the skeletal system. Some individuals may have abnormalities in their bones, such as short fingers and toes (brachydactyly) or abnormal curvature of the spine (scoliosis). These skeletal abnormalities can vary in severity and may require medical intervention or monitoring.

Other Possible Features

While the above symptoms are commonly associated with Floating-Harbor syndrome, there are other features that can occur but are less frequent. These may include hearing loss, heart defects, kidney abnormalities, and gastrointestinal issues. However, it is important to remember that not all individuals with FHS will experience these additional features.

Conclusion

Floating-Harbor syndrome is a rare genetic disorder characterized by a distinct facial appearance, growth delays, intellectual disability, and potential skeletal abnormalities. While these symptoms can vary in severity, they collectively contribute to the diagnosis of FHS. It is important for individuals with FHS to receive appropriate medical care and support to manage their specific needs and maximize their potential.