Definition of Floating-Harbor syndrome

Floating-Harbor syndrome: 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).

The syndrome is inherited in an autosomal dominant manner. Most cases appear sporadically in families with no prior history of the disease and are presumably due to new mutations.

The designation Floating-Harbor reflects the fact that patients with the syndrome were first described in 1973 at the Boston Floating Hospital and in 1975 at Harbor General Hospital in California.


Last Editorial Review: 6/14/2012

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