Floating-Harbor syndrome

Overview

Floating-Harbor syndrome is a rare genetic condition caused by faults in a gene known as SRCAP. Those affected may be short in stature, have delayed bone growth, delay in expressive language and distinct facial features – prominent nose, deep-set eyes and a long, thin upper lip. The ears may be low set and tipped backwards. They may also have learning disability and dental anomalies as well as Coeliac disease. In addition, there may be problems with the development of teeth.

Diagnosis is made on the basis of the typical features including facial features. Management of the condition includes extra support with developmental and education programmes and regular orthodontic (dental) care. Growth hormone therapy may be of benefit in some patients to increase their growth and therefore height.  All cases are sporadic (with no family history). Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Adam Shaw, Contact a Family Medical Advisory Panel.

Is there support?

Floating Harbor Syndrome UK

Email: floatingharborsyndromeuk@gmail.com
Website: floatingharborsyndrome.co.uk

The group provides support and evidence-based information to families with children with Floating Harbor syndrome. They also have resources for education professionals, and plan to offer a free online counselling service to families in the UK in the near future.

Group details last updated July 2015.