A genetic condition characterized by the triad of short stature apparent at birth with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with a prominent nose and deep-set eyes. Other features include posteriorly rotated ears, long eyelashes, thin lips, broad downturned mouth, short neck, low posterior hairline, celiac disease, joint laxity, curved fifth finger (clinodactyly), and hirsutism (hairiness).
While a more extensive list can be found below, the main characteristics of this syndrome are: *short stature *delayed bone growth *delay in expressive language *distinct facial features.
The exact cause of Floating Harbor Syndrome is not known, and only around 20 cases have been identified in medical journals and literature. More information can be obtained by contacting: