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 6 free, full-text research articles on human participants. First 3 results:

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
 

Author(s): Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn

Journal:

 

Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusively located in exon 34 of the Snf2-related CREBBP activator protein gene ...

Last Updated: 27 Apr 2015

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
 

Author(s): Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J M Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrée, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne M C Hendriks, Delphine Héron, Alexander Hoischen, Engela Magdalena Honey, Lies H Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G Kant, Chong Ae Kim, Edwin P Kirk, Nine V A M Knoers, Didier Lacombe, Chung Lee, Ivan F M Lo, Luiza S Lucas, Francesca Mari, Veronica Mericq, Jukka S Moilanen, Sanne Traasdahl Møller, Stephanie Moortgat, Daniela T Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth L Silveira, Marleen E H Simon, Anne Slavotinek, I Karen Temple, Ineke van der Burgt, Bert B A de Vries, James D Weisfeld-Adams, Margo L Whiteford, Dagmar Wierczorek, Jan M Wit, Connie Fung On Yee, Chandree L Beaulieu, , Sue M White, Dennis E Bulman, Ernie Bongers, Han Brunner, Murray Feingold, Kym M Boycott

Journal:

 

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory ...

Last Updated: 1 Aug 2014

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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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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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