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.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
Restricted Growth Association
PO Box 5137
Yeovil, BA20 9FF
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Floating Harbor Syndrome Support Group
P.O. Box 124
Rosebud, TX 76570
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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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
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Last Updated: 10/9/2014
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