Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

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

Also Known As:

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

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Miller-McKusick-Malvaux-Syndrome (3M Syndrome): 26
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Miller-McKusick-Malvaux-Syndrome (3M Syndrome): 26
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Miller-McKusick-Malvaux-Syndrome (3M Syndrome): 26
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neuromuscular Manifestations: 23
    - Muscle Hypotonia: 1437
      - Miller-McKusick-Malvaux-Syndrome (3M Syndrome): 26
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neuromuscular Manifestations: 23
      - Muscle Hypotonia: 1437
        Miller-McKusick-Malvaux-Syndrome (3M Syndrome): 26
Musculoskeletal System
- Skeleton
  - Bone and Bones
    - Spine
      - Miller-McKusick-Malvaux-Syndrome (3M Syndrome): 26

A Carcavilla Selected Research

A Carcavilla Research Topics

Disease

Drug/Important Bio-Agent (IBA)