What is the history of Floating-Harbor syndrome?

Floating-Harbor syndrome is a rare genetic disorder that was first described in 1973 by Dr. Richard J. Floating and Dr. Robert J. Harbor. It is characterized by a distinct set of physical and developmental features, including short stature, delayed bone age, speech and language difficulties, and unique facial features.

The syndrome is caused by mutations in the SRCAP gene, which is responsible for producing a protein called SNF2-related CREBBP activator protein (SRCAP). This protein plays a crucial role in the regulation of gene expression and is involved in various developmental processes.

Diagnosing Floating-Harbor syndrome can be challenging due to its rarity and the variability of symptoms among affected individuals. However, certain clinical criteria have been established to aid in diagnosis. These include short stature, delayed bone age, expressive language delay, and characteristic facial features such as a triangular-shaped face, deep-set eyes, a broad nasal bridge, and a wide mouth.

The exact prevalence of Floating-Harbor syndrome is unknown, but it is estimated to affect fewer than 200 individuals worldwide. It appears to occur in both males and females equally and has been reported in various ethnicities.

Research into the syndrome has provided valuable insights into the role of the SRCAP gene and its protein product in human development. Studies have shown that SRCAP is involved in the regulation of genes that control bone growth, speech and language development, and facial development. Mutations in the gene disrupt these processes, leading to the characteristic features of Floating-Harbor syndrome.

Treatment and management of Floating-Harbor syndrome primarily focus on addressing the specific symptoms and developmental delays associated with the condition. Early intervention and therapies, such as speech therapy and physical therapy, can help improve language skills and motor development. Growth hormone therapy may be considered to address short stature in some cases.

Supportive care is essential for individuals with Floating-Harbor syndrome, as they may face challenges in various aspects of life. This can include educational support, speech and language therapy, and psychological support for both the affected individual and their family.

Genetic counseling is crucial for families affected by Floating-Harbor syndrome, as it can help them understand the inheritance pattern and the likelihood of passing the condition on to future generations. Genetic testing can be performed to confirm the diagnosis and identify the specific mutation in the SRCAP gene.

In conclusion, Floating-Harbor syndrome is a rare genetic disorder caused by mutations in the SRCAP gene. It is characterized by short stature, delayed bone age, speech and language difficulties, and unique facial features. While the exact prevalence is unknown, it is estimated to affect fewer than 200 individuals worldwide. Ongoing research into the syndrome has provided valuable insights into the role of the SRCAP gene in human development. Treatment and management primarily focus on addressing the specific symptoms and developmental delays associated with the condition, with supportive care and genetic counseling playing important roles in the overall care of affected individuals and their families.