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Floating-harbor syndrome [Supplementary Concept]

A rare hereditary autosomal dominant disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips, Mutations in the SRCAP gene have been identified. OMIM: 136140

Date introduced: August 25, 2010

MeSH Unique ID: C537062

Heading Mapped to:

Entry Terms:

  • Leisti-Hollander-Rimoin Syndrome
  • Pelletier-Leisti syndrome
  • FLHS

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