Floating-Harbor syndrome

Floating-Harbor syndrome is a rare genetic disorder marked by short stature, delayed bone age, delayed speech development and a characteristic facial appearance. It is named for the two hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California. Growth deficiency usually shows in the first year of life, and bone age is delayed in early childhood but is typically normal by age 6 to 12. Speech delay can be severe, and most affected people also have mild intellectual disability. Typical facial features include a triangular face, a low hairline, deep-set eyes, long eyelashes, a distinctive large nose with an overhanging columella, a short philtrum and thin lips. Some people have short, clubbed or curved fingers, a high-pitched voice, or undescended testes in males. It is caused by mutations in the SRCAP gene and inherited in an autosomal dominant pattern, although most cases arise as new mutations. Only about 50 cases have been reported in the medical literature.