Floating-Harbor syndrome

What causes Floating-Harbor syndrome?

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 on 05-01-20

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 on 05-01-20

Name: Floating Harbor Syndrome Support Group P.O. Box 774
Terre Hill, PA, 17581, United States
Phone: 254-721-8184 Email: littleflock7@gmail.com Url: http://www.floatingharborsyndromesupport.com/
Name: Floating Harbor Syndrome Global Support Url: https://floatingharborsyndrome.co.uk/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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