Floating–Harbor syndrome

Autosomal dominant - en

Floating–Harbor syndrome (FHS) is a rare genetic disorder characterized by distinctive facial features, delayed bone age, short stature, and speech and language delays. The syndrome was first described in the early 1970s by Pelletier and Feingold, and it derives its name from the two hospitals where the initial cases were identified: the Floating Hospital for Children in Boston and Harbor General Hospital in Torrance, California.

Clinical Features

Individuals with Floating–Harbor syndrome typically present with a range of clinical features, including:

• Distinctive facial features such as a triangular face, deep-set eyes, a broad nasal bridge, and a wide mouth.
• Short stature, often noticeable from birth and persisting into adulthood.
• Delayed bone age, which can be identified through radiographic imaging.
• Speech and language delays, which may require intervention from speech therapists.
• Intellectual disability, which can vary from mild to moderate.

Genetics

Floating–Harbor syndrome is caused by mutations in the SRCAP gene, which is located on chromosome 16. The SRCAP gene is involved in chromatin remodeling, a process essential for the regulation of gene expression. Mutations in this gene disrupt normal development, leading to the clinical features observed in FHS.

Diagnosis

The diagnosis of Floating–Harbor syndrome is primarily clinical, based on the characteristic features and growth patterns. Genetic testing can confirm the diagnosis by identifying mutations in the SRCAP gene. Early diagnosis is crucial for managing the symptoms and providing appropriate interventions.

Management

There is no cure for Floating–Harbor syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Growth hormone therapy to address short stature.
• Speech therapy to assist with language delays.
• Educational support to address learning difficulties.
• Regular monitoring of growth and development by a multidisciplinary team.

Epidemiology

Floating–Harbor syndrome is extremely rare, with fewer than 100 cases reported in the medical literature. The exact prevalence is unknown, and it affects both males and females equally.

See Also

• Genetic disorder
• Chromatin remodeling
• Speech therapy
• Growth hormone therapy

External Links

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