Floating-Harbor syndrome is a rare condition with autosomal dominant inheritance, with the vast majority of affected individuals having de novo mutations. Approximately 100 affected individuals have been reported world-wide in medical literature. The disorder is named after the two hospitals where it was first reported – Boston Floating Hospital and Harbor General Hospital (California).
The condition comprises a typical set of features including characteristic facies, short stature, speech delay and delayed bone age. Some medical conditions such as renal anomalies are associated with the condition. Differential diagnoses include Silver-Russell, Rubenstein Taybi and 3M syndromes.
SRCAP, located on chromosome 16, was first described as the gene involved in Floating-Harbor syndrome in 2012. SRCAP is thought to be important in the regulation of cell division and normal development.