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Floating-harbor syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Floating-harbor syndrome
Unique ID
C537062
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537062
Entry Term(s)
FLHS
Leisti-Hollander-Rimoin Syndrome
Pelletier-Leisti syndrome
Registry Number
0
Heading Mapped to
*Abnormalities, Multiple
*Growth Disorders
*Heart Septal Defects, Ventricular
*Craniofacial Abnormalities
Frequency
35
Note
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 of Entry
2010/08/25
Revision Date
2015/09/26
Floating-harbor syndrome Preferred
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