Overview Of Floating-Harbor Syndrome: A Detailed Overview Of The Current Knowledge.

Genetics, Science
Overview Of Floating-Harbor Syndrome: A Detailed Overview Of The Current Knowledge.
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Floating-Harbor Syndrome: Symptoms And Description

Discovered in 1973 by Pelletier and Feingold in a patient admitted at the Boston Floating Hospital, Floating-Harbor syndrome, also known as the Pelletier-Leisti syndrome, is a very rare genetic disorder that is typically characterized by short stature, delayed speech development and a unique facial appearance.

It was named after the first two identified patients from Boston Floating Hospital and Harbor General Hospital respectively. It is a very rare disorder and to date, only twenty confirmed cases have been recorded. Since it is so rare, it has a prevalence rate of 1 in 200,000 people in the United States.

It is characterized by a variety of symptoms that include: short stature, delayed expressive language skills, delayed speech development, delayed bone growth and a triangular face which becomes more prominent with age. Patients have a broad nose, deep-set eyes and a rather wide mouth with thin lips which give a striking Facial appearance.

Other features of Floating-Harbor Syndrome are low birth weight, intrauterine growth retardation, feeding issues, hyperkinetic behavior, the exhibition of clubbed fingers and excessive body hair with long eyelashes, dental problems, learning limitations, gluten intolerance, constipation, pulmonary stenosis, lack of philtrum, tiny and deep-set nails, dysplastic hips, a high-pitched voice and cataracts.

What Causes Floating-Harbor Syndrome: The Genetic Aspects

The exact cause of Floating-Harbor Syndrome is still unknown, although it was initially though to be transmitted as an autosomal dominant trait, but this has not yet been confirmed. So far, the clinical histories and physical findings of patients have indicated autosomal recessive inheritance or a germinal mosaicism resulting in autosomal dominant mutation. As yet, there is no scientific proof to associate Floating-Harbor Syndrome with any hormonal or metabolic causes.

Since there are no records of recurrence of this syndrome in siblings or families and with the very limited amount of knowledge available, it would be safe to advise parents of a low recurrence risk in subsequent pregnancies. Almost all the cases have been observed sporadically in families that show no records of any prior history of the disease and it is now assumed that Floating-Harbor Syndrome is caused by new mutations.

Diagnosis, Treatment and Patient Management

The diagnosis of Floating-Harbor Syndrome is usually made through the striking facial features, radiological and related evaluations like neurological as well as physical and speech evaluations. A look at the patient history to evaluate occurrences of the typical symptoms is also advised. There are no specific genetic tests available for the concrete diagnosis of the Floating-Harbor Syndrome. There is no specific treatment and the best treatment options are appropriate management of the variety of symptoms and problems your child might show.

In this disorder, the treatment options are usually symptomatic and supportive. If there are dental problems and cataracts they can be surgically removed. Use of sign language and speech therapy assists in managing developmental delays in expressive language. Speech therapy is known to help children above three years of age. Tutoring helps to overcome learning disabilities encountered when school-going age is reached. The use of protective headgear and sunglasses outdoors for patients with sensitivity to sunlight is helpful. It is also a good idea to monitor the child’s diet and provide maximum calorific food combined with lots of rest. Since most Floating-Harbor Syndrome patients, especially kids really dislike changes, it is best to inform them in advance on what to expect and how to handle it.

References

  1. Patton, M. A et al. (1991). Floating-Harbor syndrome. J Med Genet 1991; 28: 201-204.

  2. ‘Floating-Harbor syndrome.’ Retrieved on October 25th, 2010 from Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/GARD/QnA.aspx?PageID=4&CaseID=23704&DiseaseID=6455

  1. MIM ID %136140 FLOATING-HARBOR SYNDROME. (2010). Retrieved on October 25tht, 2010 from OMIM (Online Medelian Inheritance in Man), NCBI (National Center for Biotechnology Information, U.S. National Library of Medicine): https://www.ncbi.nlm.nih.gov/omim/136140

  2. Ala-Mello, S., Peippo, M. (2004). The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. Am. J. Med. Genet. 130A: 317-319, 2004.