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Miller-McKusick-Malvaux-Syndrome (3M Syndrome) MeSH Supplementary Concept Data 2022


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 Number
0
Heading Mapped to
*Dwarfism
*Muscle Hypotonia
Spine / *abnormalities
Frequency
42
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
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Preferred
Three M Syndrome 1 Narrower
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