Floating-Harbor syndrome (FHS) is a rare genetic disorder described by facial dysmorphism, short stature with delayed bone age, and delayed speech development. The facial traits consist of a triangular shaped face with deep set eyes and long eye lashes, large bulbous nose with a broad nasal bridge, wide columella, short philtrum, and a wide mouth with thin lips. FHS is diagnosed through clinical phenotype especially depending on facial dysmoprphism. Differential diagnosis includes Rubinstein-Taybi syndrome and monosomy 22q11. The age of onset of FHS was found to be neonatal/infancy. Floating-Harbor syndrome cases are reported for both males and females but are found to be more frequent in females.
Mutations in SRCAP (Snf2 Related CREBBP Activator Protein) gene is responsible for causing FHS. It is mapped to the chromosomal region 16p11.2 and is involved in transcriptional regulation by chromatin remodeling.