Miller-McKusick-Malvaux-Syndrome (3M Syndrome) [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C535314
Heading Mapped to:
Entry Terms:
- 3-M Syndrome
- 3M Syndrome
- Three M Syndrome
- Miller-McKusick-Malvaux-Syndrome
- Three M Syndrome 1
- Le Merrer Syndrome
- Gloomy Face Syndrome
- Yakut Short Stature Syndrome
- Three-M Slender-Boned Nanism
- Dolichospondylic Dysplasia