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Floating Harbor Syndrome

Abstract

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NORD gratefully acknowledges Sarah M. Nikkel, MD, FRCPC, FCCMG, Associate Professor, Pediatrics, University of Ottawa, Clinical Geneticist, Department of Genetics, Children’s Hospital of Eastern Ontario, for assistance in the preparation of this report.

Synonyms of Floating Harbor Syndrome

  • FHS
  • Pelletier-Leisti syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
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.

Introduction
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 Resources

Organizations:

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