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