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

SM Nikkel, A Dauber, S de Munnik, M Connolly, RL Hood, O Caluseriu, J Hurst, U Kini, MJM Nowaczyk, A Afenjar, B Albrecht, JE Allanson, P Balestri, T Ben-Omran, F Brancati, I Cordeiro, BS da Cunha, LA Delaney, A Destree, D FitzPatrickF Forzano, N Ghali, G Gillies, K Harwood, YMC Hendriks, D Heron, A Hoischen, EM Honey, LH Hoefsloot, J Ibrahim, CM Jacob, SG Kant, CA Kim, EP Kirk, NVAM Knoers, D Lacombe, C Lee, IFM Lo, LS Lucas, F Mari, V Mericq, JS Moilanen, ST Moller, S Moortgat, DT Pilz, K Pope, S Price, A Renieri, J Sa, J Schoots, EL Silveira, MEH Simon, A Slavotinek, IK Temple, I van der Burgt, BBA de Vries, JD Weisfeld-Adams, ML Whiteford, D Wierczorek, JM Wit, CFO Yee, CL Beaulieu, SM White, DE Bulman, E (Ernie) Bongers, H Brunner, M Feingold, KM Boycott

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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 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.
Original languageUndefined/Unknown
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 2013

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