Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970's: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability.  Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene. The mutation can be inherited from a parent or can occur for the first time in an affected individual. Communication issues and developmental disabilities may be helped with early intervention programs and special education.
Last updated: 4/29/2016
What are the signs and symptoms of Floating-Harbor syndrome (FHS)?
Symptoms found in individuals with FHS vary from person to person and may include:
Characteristic facial features including a triangular face, a low hairline, deep set eyes, long eyelashes, a large, distinctive nose, and a shortened distance between the nose and upper lip (short philtrum). Some facial characteristics may become more prominent over time.
Short stature and slowing of the mineralization of bones (delayed bone age). Bone age is delayed in early childhood and usually normalizes between ages 6 and 12.
Skeletal abnormalities including shortening of the fingers and toes (brachydactyly), large or bulging fingertips (clubbing), bent or curved fingers (clinodactyly), shortened thumbs, prominent joints, and abnormalities of the clavicle or collarbone.
Intellectual disability and learning delays, including delays in speech.
Behavioral difficulties that tend to improve in childhood.
FHS is caused by mutations 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 passed on in an autosomal dominant manner which means each child of parent with a mutation has a 50% chance of also having the mutation.
Last updated: 4/29/2016
How might Floating-Harbor syndrome (FHS) be treated?
The treatment of FHS is directed toward specific symptoms. Early intervention and services are important to insure that children with FHS reach their potential. Treatment may require the coordinated effort of a team of specialists, including: pediatricians, neurologists, orthopedists, audiologists, ophthalmologists, occupational therapists, physical therapists, and speech therapists.
Additional social and vocational services may also help. In some cases, behavior management strategies may be needed. Yearly testing of vision, hearing, blood pressure, and kidney function are suggested. Ultrasound imaging to check for kidney (renal) cysts in affected teenagers and adults is also suggested.
Growth hormone has been used to treat some individuals with FHS, although information about its effectiveness in this population is limited.
Last updated: 8/23/2016
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