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Diseases

Genetic and Rare Diseases Information Center (GARD)

Floating-Harbor syndrome


Other Names for this Disease
  • Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes
  • Pelletier-Leisti syndrome
  • FHS
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Your Question

What information can you provide about Floating-Harbor syndrome?

Our Answer

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What is Floating-Harbor syndrome?

Floating-Harbor syndrome (FHS) is named after the two hospitals where the first cases were reported in the medical literature: the Boston Floating Hospital and Harbor General Hospital in California.[1] The first cases were identified during the 1970's and there is much about the disorder that is not fully understood. Signs and symptoms of floating harbor syndrome can vary but may include the following: short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language deficits, and mild to moderate intellectual disability. [1][2][3][4] Behavioral difficulties that are present in many children tend to improve with age.[4] FHS is caused by mutations or changes in the SRCAP gene. The mutation can be inherited from a parent or can be the result of a new mutation in the affected individual.[1][3][4] Early intervention programs and special education to address developmental disabilities and communication issues may be indicated.[4]
Last updated: 4/29/2016

What characteristics have been associated with Floating-Harbor syndrome?

Floating-Harbor syndrome is characterized by short stature, delayed language skills (particularly expressive langauge), delayed bone growth, and a triangular shaped face. A broad nose, deep-set eyes and a wide mouth with thin lips give an affected individual a distinct appearance.[2][3]

Other possible manifestations of this condition include:[2]

Last updated: 5/7/2009

What causes Floating-Harbor syndrome?

Floating-Harbor syndrome is caused by mutations or changes in the SRCAP gene. The mutation can be inherited from a parent or it can be the result of a new mutation in the affected individual. FHS is inherited in an autosomal dominant manner so each child of an individual with FHS has a 50% chance of inheriting the mutation.[1][4]
Last updated: 4/29/2016

How might Floating-Harbor syndrome be treated?

The treatment of Floating-Harbor syndrome is directed toward the specific symptoms that are present in each individual. Treatment may require the coordinated effort of a team of specialists. Early developmental intervention is important to ensure that affected children reach their potential; most affected children will benefit from occupational, physical, and speech therapy. Additional social and/or vocational services  may also be beneficial. In some cases, behavior management strategies may be needed.[3][4] Growth hormone has been used in some cases to treat individuals with FHS, though there is limited information on the effectiveness of growth hormone therapy in this population.[3][4] Annual evaluations of vision, hearing, blood pressure, and kidney function are suggested. Sonographic evaluation for renal (kidney) cysts in teenage/adult years is also indicated.[4]
Last updated: 4/29/2016

References
Other Names for this Disease
  • Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes
  • Pelletier-Leisti syndrome
  • FHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.