Nikkel, Sarah MDauber, Andrewde Munnik, SonjaConnolly, MeghanHood, Rebecca LCaluseriu, OanaHurst, JaneKini, UshaNowaczyk, Malgorzata JAfenjar, AlexandraAlbrecht, BeateAllanson, Judith EBalestri, PaoloBen-Omran, TawfegBrancati, FrancescoCordeiro, Isabelda Cunha, Bruna SDelaney, Louisa ADestrée, AnneFitzpatrick, DavidForzano, FrancescaGhali, NeetiGillies, GretaHarwood, KaterinaHendriks, Yvonne MHéron, DelphineHoischen, AlexanderHoney, Engela MHoefsloot, Lies HIbrahim, JenniferJacob, Claire MKant, Sarina GKim, Chong AKirk, Edwin PKnoers, Nine VLacombe, DidierLee, ChungLo, Ivan FLucas, Luiza SMari, FrancescaMericq, VeronicaMoilanen, Jukka SMøller, Sanne TMoortgat, StephaniePilz, Daniela TPope, KatePrice, SusanRenieri, AlessandraSá, JoaquimSchoots, JeroenSilveira, Elizabeth LSimon, Marleen ESlavotinek, AnneTemple, I Kvan der Burgt, Inekede Vries, Bert BWeisfeld-Adams, James DWhiteford, Margo LWierczorek, DagmarWit, Jan MYee, Connie F OBeaulieu, Chandree LWhite, Sue MBulman, Dennis EBongers, ErnieBrunner, HanFeingold, MurrayBoycott, Kym M2015-12-182015-12-182013-04-27Orphanet Journal of Rare Diseases. 2013 Apr 27;8(1):63http://dx.doi.org/10.1186/1750-1172-8-63http://hdl.handle.net/10393/33793Abstract Background 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 test, we set forth to define the clinical features of this syndrome. Methods and results Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.Journal Article2015-12-18enNikkel et al.; licensee BioMed Central Ltd.