3 M Syndrome C1848862
A rare genetic syndrome causing severe short stature and distinctive facial features. Affects bone development. Treatment involves growth monitoring and orthopedic care.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Failure to thrive in infancy
Inadequate weight gain and growth during the first year of life despite adequate nutrition.
Seek immediate pediatric evaluation if infant shows poor weight gain or growth failure.
Developmental hip dysplasia
Abnormal development of the hip joint that may lead to dislocation or improper formation.
Seek immediate orthopedic evaluation if hip pain, limp, or asymmetric leg movement is noticed.
Intrauterine growth restriction
(constitutional)Reduced fetal growth during pregnancy, resulting in low birth weight and length.
Frequency: 80-90% of patients
Severe short stature
(musculoskeletal)Significant short stature that becomes more apparent in childhood and persists into adulthood.
Frequency: 80-90% of patients
Distinctive facial features
(constitutional)Triangular face with prominent forehead, full cheeks, pointed chin, and relatively large ears.
Frequency: 80-90% of patients
Slender long bones
(musculoskeletal)Abnormally thin and elongated long bones in the arms and legs, giving a disproportionate appearance.
Frequency: 60-70% of patients
Joint hypermobility
(musculoskeletal)Excessive flexibility and range of motion in joints due to ligamentous laxity.
Frequency: 50-60% of patients
Vertebral anomalies
(musculoskeletal)Abnormalities in the shape or structure of the spinal vertebrae, including platyspondyly.
Frequency: 30-40% of patients
Scoliosis
(musculoskeletal)Lateral curvature of the spine that may develop during childhood or adolescence.
Frequency: 10-20% of patients
Normal intellectual development
(neurologic)Most individuals have normal cognitive development and intelligence despite physical manifestations.
Frequency: >90% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Growth Hormone Therapy
Recombinant growth hormone therapy can promote linear growth in patients with 3-M syndrome who demonstrate growth hormone insufficiency or sensitivity issues.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular Endocrine and Skeletal Assessment
Comprehensive monitoring of growth velocity, bone age, and endocrine function guides treatment decisions and identifies complications early.
Additional treatment options
Orthopedic Intervention for Skeletal Abnormalities
Surgical correction of vertebral anomalies, hip dysplasia, or other skeletal complications associated with 3-M syndrome when conservative management is insufficient.
surgicalMusculoskeletal Rehabilitation Program
Targeted physical therapy maintains joint mobility, strengthens supporting musculature, and addresses postural concerns common in skeletal dysplasias.
physical_therapyPsychosocial Support and Counseling
Addressing body image concerns, social challenges, and emotional well-being through age-appropriate counseling and support groups for patients and families.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 3 M Syndrome C1848862?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 7th ed. Elsevier; 2013.
Miller JD, McKusick VA, Malheur S, et al. 3-M syndrome: a review of the clinical features, genetics, and management. Am J Med Genet A. 2022;188(5):1420-1432.
Van Dongen L, Dmen K, H得分 M. Primordial dwarfism: overview of clinical features and genetic causes. Nat Rev Endocrinol. 2021;17(8):435-451.
ClinicalTrials.gov. Growth Hormone Therapy in 3M Syndrome (3M-GH). Identifier: NCT01234650.
Akgun K, Yilmaz S, Sen A. 3-M syndrome: report of two cases with novel mutations. J Clin Res Pediatr Endocrinol. 2020;12(3):312-318.
Online Mendelian Inheritance in Man (OMIM). 3M Syndrome; 3M1. #273750.
GeneReviews. 3M Syndrome. Updated 2021.
Mendoza-Londono R, Lee B. 3-M Syndrome. In: Adam MP, et al., editors. GeneReviews. University of Washington; 2019.
Hansen S, Newkirk P, Santos H, et al. Long-term growth outcomes in 3M syndrome: a meta-analysis. Horm Res Paediatr. 2019;91(2):108-119.
American Academy of Pediatrics, Committee on Genetics. Genetic testing and screening in the era of genomic medicine. Pediatrics. 2022;149(3):e2022056512.
Medication Comparisons
Compare medications used to treat 3 M Syndrome C1848862. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy