Floating Harbor Syndrome

Common Name(s)

Floating Harbor Syndrome, Floating-Harbor Syndrome

Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California.  The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Floating Harbor Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Floating Harbor Syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
 

Author(s): Rebecca L Hood, Matthew A Lines, Sarah M Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Małgorzata J M Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S Moilanen, Didier Lacombe, Gabriele Gillessen-Kaesbach, Margo L Whiteford, Caio Robledo D C Quaio, Israel Gomy, Debora R Bertola, Beate Albrecht, Konrad Platzer, George McGillivray, Ruobing Zou, D Ross McLeod, Albert E Chudley, Bernard N Chodirker, Janet Marcadier, , Jacek Majewski, Dennis E Bulman, Susan M White, Kym M Boycott

Journal: Am. J. Hum. Genet.. 2012 Feb;90(2):308-13.

 

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. ...

Last Updated: 13 Feb 2012

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Growth hormone deficiency: an unusual presentation of floating harbor syndrome.
 

Author(s): Assimina Galli-Tsinopoulou, Ioannis Kyrgios, Eleftheria Emmanouilidou, Ioanna Maggana, Eleni Kotanidou, Paraskevi Kokka, Charilaos Stylianou

Journal: Hormones (Athens). ;10(3):236-40.

 

Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. This syndrome has only once been associated with growth hormone ...

Last Updated: 17 Oct 2011

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First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly.
 

Author(s): Mukadder Ayşe Selimoğlu, Erol Selimoğlu, Vildan Ertekin, Ibrahim Caner, Zerrin Orbak

Journal: Yonsei Med. J.. 2004 Apr;45(2):334-6.

 

We report the first Turkish patient with Floating Harbor Syndrome (FHS). The 12-year old male patient exhibited classical dysmorphic features of FHS, mental retardation, celiac disease and additional undescribed findings: microcephaly and cryptorchidism.

Last Updated: 30 Apr 2004

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Floating Harbor Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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