There is no support group for Floating-Harbour syndrome in the UK. Families can use Contact a Family's freephone helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service MakingContact.org can be accessed at www.makingcontact.org
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.