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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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Overview

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

References

  1. Floating-Harbor syndrome. Genetics Home Reference. December, 2012; https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome#genes. Accessed 4/29/2016.
  2. Floating Harbor Syndrome Support Group. http://www.floatingharborsyndromesupport.com/. Accessed 4/29/2016.
  3. Nikkel, Sarah. Floating Harbor Syndrome. National Organization for Rare Disorders (NORD). 2014; http://rarediseases.org/rare-diseases/floating-harbor-syndrome. Accessed 4/29/2016.
  4. Nowaczyk, Malgorzata. Floating-Harbor syndrome. GeneReviews. January, 2013; http://www.ncbi.nlm.nih.gov/books/NBK114458. Accessed 4/29/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Floating-Harbor syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Floating-Harbor syndrome. Click on the link to view a sample search on this topic.
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.