Floating Harbor Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Floating Harbor Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays. Children may be below average height for their age (short stature). Additional symptoms including mild to moderate intellectual disability have also been reported. The specific symptoms and severity FHS can vary greatly from one person to another. FHS is caused by mutations in the SRCAP gene. This mutation is inherited in an autosomal dominant manner, although most cases of FHS occur randomly (sporadically) as the result of a new (de novo) mutation. Treatment is symptomatic and supportive.
Floating-Harbor syndrome was named after the two hospitals where, during the 1970s, the first cases were identified and reported in the medical literature; namely, the Boston Floating Hospital and Harbor General Hospital in California.
Floating Harbor Syndrome Support Group
- P.O. Box 124
- Rosebud, TX 76570
- Email: firstname.lastname@example.org
- Website: http://www.floatingharborsyndromesupport.com
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Human Growth Foundation
- 997 Glen Cove Avenue
- Suite 5
- Glen Head, NY 11545
- Tel: (516)671-4041
- Fax: (516)671-4055
- Tel: (800)451-6434
- Email: email@example.com
- Website: http://www.hgfound.org/
- 6645 W. North Avenue
- Oak Park, IL 60302
- Tel: (708)383-0808
- Fax: (708)383-0899
- Tel: (800)362-4423
- Email: firstname.lastname@example.org
- Website: http://www.magicfoundation.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
Restricted Growth Association
- PO Box 5137
- Yeovil, BA20 9FF
- United Kingdom
- Tel: 3001111970
- Fax: 3001112454
- Email: email@example.com
- Website: http://www.restrictedgrowth.co.uk
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 12/12/1969
Copyright 2014 National Organization for Rare Disorders, Inc.
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