Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare disease with less that 50 cases described in the literature. It is usually diagnosed in early childhood. Although its cause is presently unknown it is thought to be due to a genetic mutation.
All cases of this syndrome have the triad of short stature, expressive language delay and a triangular face with a prominent nose and deep set eyes.
The short stature is often apparent at birth and is associated with significantly delayed bone age. Stature may be as much as 4-6 standard deviations below the mean height for age. Expressive language delay occurs despite normal motor development. The facies are triangular with a prominent nose and deep set eyes. Other features that may be present include posteriorly rotated ears, long eyelashes, a bulbous nose, a wide columella, a short philtrum, thin lips, a broad downturned mouth, a short neck and a low posterior hairline.
There is a strong association with celiac disease. Joint laxity, curved fifth fingers (clinodactyly) and hirsutism may also be found. Dental anomalies (malocclusion, supernumerary upper teeth) occur. Intellectual functioning may range from borderline low to moderate intellectual disability. Early puberty may occur. Heart defects may be present: the most commonly recognised involves a narrowing of the pulmonary artery (pulmonary stenosis). The urethra may open on the underside of the penis (hypospadias).
(Note: The information above is courtesy of Wikipedia)