Paula and Bobby
Parents of Lillie
Floating-Harbor syndrome (FLHS)
What is Floating-Harbor syndrome (FLHS)?
Floating-Harbor syndrome is a genetic condition that presents with unique facial features and characteristics.
Other main symptoms include proportionate short stature, delayed bone age and delayed speech development.
It is named for the hospitals in California where it was first described.
What gene changes cause Floating-Harbor syndrome (FLHS)?
Mutations in the SRCAP gene located on chromosome 16 are responsible for the syndrome. Most cases are the result of a de novo mutation, but occasionally the syndrome may be caused by the inheritance of the deletion from one affected parent.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Floating-Harbor syndrome (FLHS)?
The symptoms of the syndrome include mild intellectual disability and delayed speech development.
In infancy individuals with the syndrome may show delayed bone age, but this usually corrects anywhere from 6-12 years of age.
Physical conditions of the syndrome include a triangular face, low hairline, deep-set eyes, long eyelashes, a large nose that becomes more prominent with age, a short philtrum and thin lips.
Individuals may also have short fingers, clubbing, a curved fifth finger and sometimes a high-pitched voice.
How does someone get tested for Floating-Harbor syndrome (FLHS)?
The initial testing for Floating-Harbor syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
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