Floating-Harbor Syndrome: A Case Report

Introduction: The Floating-Harbor syndrome (FHS) is a rare short stature syndrome, which is caused by a SRCAP gene mutation and leads to characteristic facial appearance, a developmental disorder of variant extent, and a distinct short stature. Case Report: We saw a 1.6 years old boy with delayed development of motor skills since birth, poor feeding, nail dysplasia, and facial abnormalities with high forehead, deep-set wide-eyed, broad nasal bridge, short philtrum, wide mouth and narrow upper lip, wide fingertips, and severe language delay. Suspecting a genetic disease, a CGH (comparative genomic hybridization) array analysis was done, which resulted in no pathological findings. Because of the characteristic facial dysmorphisms, we suspected an FHS and performed a molecular genetic analysis of the SRCAP gene. Molecular analysis identified a typical mutation in exon 34, c.7330C > T (p.R2444X) in a simple, heterozygous dose. The mutation was not detected in the parents so that it is a de novo mutation in the patient. Because of the autosomal dominant mode of inheritance, the recurrence risk is 50% for offspring of the patient. Discussion: The FHS is a rare but very characteristic, genetic short stature syndrome. If the individual shows typical facial appearance, the FHS can be detected by a targeted molecular genetic investigation. The facial dysmorphic features are particularly distinct in midchildhood. The expressive language delay is a cardinal feature of the syndrome and a high-pitched voice or a nasal quality to the voice is often reported. Other symptoms are learning or mild intellectual disability, behavioral problems such as attention deficit disorder, anxiety, and mannerisms, as well as rare urogenital and cardiac malformations. Differential diagnoses include other dysmorphic syndromes such as the Rubinstein-Taybi syndrome and microdeletion 22q11.