MeSH Browser

MeSH Supplementary: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Unique ID: C535314
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535314
Entry Term(s): 3-M Syndrome; 3M Syndrome; Dolichospondylic Dysplasia; Gloomy Face Syndrome; Le Merrer Syndrome; Miller-McKusick-Malvaux-Syndrome; Three M Syndrome; Three M Syndrome 1; Three-M Slender-Boned Nanism; Yakut Short Stature Syndrome
Registry Numbers: 0
Heading Mapped to: *Dwarfism; *Muscle Hypotonia; Spine / abnormalities
Frequency: 45
Note: A hereditary autosomal recessive disorder characterized by distinctive facial features (FACIES), severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and PES PLANUS. Mutations in the CUL7 gene have been identified. OMIM: 273750
Date of Entry: 2010/08/25
Revision Date: 2019/06/20

Concept UI: M0529775
Registry Numbers: 0
Terms: Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Preferred Term
Term UI T752165
Date06/03/2009
LexicalTag EPO
ThesaurusID NLM (2010); 3-M Syndrome
Term UI T844599
Date05/23/2013
LexicalTag NON
ThesaurusID; 3M Syndrome
Term UI T844600
Date05/23/2013
LexicalTag NON
ThesaurusID; Three M Syndrome
Term UI T844601
Date05/23/2013
LexicalTag NON
ThesaurusID; Miller-McKusick-Malvaux-Syndrome
Term UI T000961465
Date06/20/2019
LexicalTag NON
ThesaurusID NLM (2019)

Concept UI: M0565072
Registry Numbers: 0
Terms: Three M Syndrome 1 Preferred Term
Term UI T805600
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Le Merrer Syndrome
Term UI T805601
Date11/15/2011
LexicalTag NON
ThesaurusID; Gloomy Face Syndrome
Term UI T805603
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Yakut Short Stature Syndrome
Term UI T810518
Date11/15/2011
LexicalTag NON
ThesaurusID; Three-M Slender-Boned Nanism
Term UI T840780
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Dolichospondylic Dysplasia
Term UI T844602
Date05/23/2013
LexicalTag NON
ThesaurusID

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) MeSH Supplementary Concept Data 2025