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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
Networked: 26 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mulibrey Nanism (Mulibrey Nanism Syndrome)
2. Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
3. Floating-harbor syndrome
4. Type 1 Kenny-Caffey syndrome
5. Dubowitz syndrome

Experts

1. Cormier-Daire, Valérie: 2 articles (01/2019 - 10/2005)
2. Dauber, Andrew: 2 articles (01/2017 - 01/2014)
3. Superti-Furga, Andrea: 2 articles (03/2013 - 10/2005)
4. Black, G C M: 2 articles (01/2013 - 12/2012)
5. Clayton, P E: 2 articles (01/2013 - 12/2012)
6. Coulson, T: 2 articles (01/2013 - 12/2012)
7. Hanson, D: 2 articles (01/2013 - 12/2012)
8. Murray, P G: 2 articles (01/2013 - 12/2012)
9. Black, Graeme C M: 2 articles (01/2011 - 10/2005)
10. Clayton, Peter E: 2 articles (01/2011 - 10/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Miller-McKusick-Malvaux-Syndrome (3M Syndrome):
1. Growth Hormone (Somatotropin)IBA
2. Cullin Proteins (Cullins)IBA
3. DNA (Deoxyribonucleic Acid)IBA
4. UbiquitinIBA
5. Proteins (Proteins, Gene)FDA Link
6. Ligases (Synthetase)IBA
7. F-Box ProteinsIBA
8. Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
9. RNA Splice SitesIBA
10. Human Growth Hormone (Saizen)FDA LinkGeneric

Therapies and Procedures

1. Therapeutics
2. Cesarean Section (Caesarean Section)