Floating Harbor Syndrome (FHS)

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Floating Harbor syndrome is named after two hospitals where diagnoses were first made.  In 1973, Pelletier and Feingold described a young male who was seen at the Boston Floating Hospital with short stature, delayed speech and unusually triangular face.  A similar case, at the Harbor General Hospital, Torrance, California, was published by Leisti and colleagues.

In 2018 there are thought to be less than 100 people in the world with a diagnosis of
Floating Harbor Syndrome.

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Symptoms

Symptoms and severity of FHS can vary from person to person. Not everyone with FHS will have all of the symptoms listed below.

  • A distinctive triangular face and other features such as a low hairline, deep set eyes and a large distinctive nose.  Facial features are currently seen as the defining features of FHS.
  • Short stature with delayed bone age, other skeletal issues such as short fingers and toes, clubbing, bent or curved fingers, short thumbs, prominent joints and changes to collarbone. Dental anomalies have also been reported.
  • Receptive and expressive language delays
  • Sensory and processing disorders which can be hyper and hypo sensory affecting textures, tastes, feelings, and sounds.
  • Mild to moderate intellectual disability and behavioural difficulties such as anxiety or attention deficit disorder.
  • Other symptoms reported have affected vision (hyperopia and/or strabismus), hearing loss, seizures, gastro oesophageal reflux, kidneys and genitals (hypospadias and/or undescended testicles in boys).

Treatment

FHS is a lifelong condition. Treatment focuses on managing specific symptoms and may include hearing and eye assessments, renal and urinary tract scans, a neurological assessment if seizures are suspected, dental care, growth assessment and monitoring, educational input for speech and sensory issues and monitoring with early input of any behavioural concerns.

Professionals with specialist knowledge in neurology, audiology, orthopaedics, psychology, orthodontist, genetics and more could be required. A general paediatrician will involve all the necessary professionals to address the needs of the person with FHS. 

Genetics and Inheritance

Floating Harbor Syndrome is caused by a change or ‘mutation’ in a gene called “SRCAP”.  We all have two copies of this gene; we inherit one from each parent.  Having a change in just one copy of SRCAP causes FHS.

If someone with Floating Harbor Syndrome has children then each child has a 50% chance of inheriting FHS.  This is called autosomal dominant inheritance.

Most cases of Floating Harbor Syndrome happen ‘de novo’.  This means the parents are not affected but the gene change in SRCAP happened by chance around the time of conception.  In these families the chance of another child having FHS is extremely low.

Outlook

There has been a slow but increasing number of children who have been diagnosed over the last 10 years; this may be due to FHS being more recognised and advances in genetic testing.  As with all rare conditions getting the right support is essential. Children with FHS need support when entering education.  Parent with experience in this area have written some guidance in this area (see links below).

Connecting parents and qualified professionals can help improve our understanding of how best to help people affected by FHS. 

This page was last updated on 17.04.2018 by a genetic counsellor and patient advocate.

Disclaimer: The information provided should not be used for the diagnosis, management or treatment of health conditions. Although all reasonable care has been taken to ensure the accuracy of the information, Genetic Disorders UK cannot accept responsibility for any errors or omissions. You should consult your doctor in all matters relating to genetic diagnosis, management and health.

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