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:

• Abnormalities, Multiple
• Growth Disorders
• Heart Septal Defects, Ventricular
• Craniofacial Abnormalities

Entry Terms:

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