MeSH Browser

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 Numbers: 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

Concept UI: M0531523
Registry Numbers: 0
Terms: Floating-harbor syndrome Preferred Term
Term UI T741335
Date02/24/2009
LexicalTag NON
ThesaurusID; FLHS
Term UI T000885677
Date08/27/2015
LexicalTag NON
ThesaurusID OMIM (2016); Pelletier-Leisti syndrome
Term UI T741337
Date02/24/2009
LexicalTag NON
ThesaurusID; Leisti-Hollander-Rimoin Syndrome
Term UI T841441
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Floating-harbor syndrome MeSH Supplementary Concept Data 2025