Floating-Harbor syndrome

Floating-Harbor syndrome is a genetic developmental disorder that affects growth and development. It is mainly characterized by distinctive facial features, short stature with delayed bone age, and difficulties with expressive language. These features can vary among people with this condition, and the degree to which they are present may differ from person to person. The condition is known by several names and synonyms including Floating Harbor Syndrome, FHS, and Pelletier-Leisti syndrome. It has been recognized in medical literature and databases such as OMIM and Orphanet, which document its genetic basis and clinical features.

People with Floating-Harbor syndrome often have distinctive facial features such as a triangular face with a prominent nose and deep-set eyes. They also typically experience short stature and a delay in bone age. Additionally, many individuals may show delays in developing expressive language skills.

Floating-Harbor syndrome is caused by changes in the SRCAP gene, which plays a role in the normal development of a person. Because it is a genetic condition, the traits are usually evident from early in life.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.