Floating-Harbor syndrome definition - medical term
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).
T he 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.
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