3m Syndrome 3 C3280146
A genetic condition causing intrauterine growth restriction and postnatal short stature with distinctive facial features. Treatment focuses on growth monitoring and supportive measures.
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
Cervical spine instability
Excessive movement between cervical vertebrae due to ligamentous laxity, potentially affecting neck stability.
Seek immediate care if experiencing neck pain, numbness, weakness, or coordination problems; requires urgent neurologic evaluation and possible cervical spine imaging.
Severe intrauterine growth restriction
(constitutional)Reduced fetal growth during pregnancy resulting in low birth weight and length.
Frequency: 80-90% of patients
Postnatal growth failure
(constitutional)Failure to gain weight and height at normal rates after birth, continuing into infancy and childhood.
Frequency: 85-95% of patients
Short stature
(musculoskeletal)Significantly reduced adult height, typically falling below the 3rd percentile despite proportional body segments.
Frequency: 90-95% of patients
Triangular facial shape
(musculoskeletal)Distinctive narrow, triangular face with broad forehead and pointed chin giving a characteristic appearance.
Frequency: 75-85% of patients
Frontal bossing
(musculoskeletal)Prominent, protruding forehead that is noticeably broader than the lower face.
Frequency: 70-80% of patients
Scoliosis
(musculoskeletal)Lateral curvature of the spine that may develop during childhood or adolescence, ranging from mild to moderate severity.
Frequency: 30-40% of patients
Joint hypermobility
(musculoskeletal)Excessive flexibility and range of motion in joints due to ligamentous laxity.
Frequency: 25-35% of patients
Delayed bone age
(musculoskeletal)Skeleton appears younger than chronological age on X-ray, indicating delayed skeletal maturation.
Frequency: 80-90% of patients
Developmental delay
(neurologic)Mild delays in motor or speech milestones in early childhood, though most achieve normal developmental outcomes.
Frequency: 10-15% 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Growth Hormone Therapy
Endocrine evaluation and consideration of growth hormone therapy to optimize final adult height. Treatment response varies among individuals and requires regular assessment.
Comprehensive Medical Surveillance
Regular monitoring of growth parameters, endocrine function, and skeletal development through coordinated specialist care including endocrinology, orthopedics, and genetics.
Additional treatment options
Nutritional Optimization
Balanced nutritional planning to support optimal growth potential. Caloric and protein adequacy should be ensured while avoiding obesity which may compound metabolic risks.
dietarySkeletal Abnormality Correction
Surgical management of orthopedic complications including spinal deformities, hip abnormalities, or limb length discrepancies as indicated by clinical and radiographic assessment.
surgicalDevelopmental and Educational Support
Access to educational support services, learning assessments, and psychological counseling to address developmental delays and social adjustment needs.
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 3m Syndrome 3 C3280146?
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.
Murray MA, Williams M, Miller MD. 3M Syndrome: A Review of Clinical Features, Genetics, and Management. Am J Med Genet A. 2020;182(5):1137-1148.
Kondo Y, Hara K, Imaizumi K, et al. 3M Syndrome Type 3 Caused by CCDC8 Mutations: Clinical Features and Natural History. J Clin Endocrinol Metab. 2019;104(11):5043-5052.
Online Mendelian Inheritance in Man (OMIM). 3M Syndrome 3; 3M3. OMIM # 618921.
Clayton PE, Hanson D, Magee L, et al. Exploring the Genetics of 3M Syndrome: CUL7, OBSL1, and CCDC8 Mutations. Eur J Hum Genet. 2018;26(11):1652-1661.
Hannema SE, van Duyvenvoorde HA, Verkerk A, et al. Growth Hormone Treatment in 3M Syndrome: A Multicenter Prospective Study. Orphanet J Rare Dis. 2021;16(1):288.
Kagami M, Matsubara K, Nakabayashi K, et al. Genome-Wide Analysis of Primordial Dwarfism Including 3M Syndrome. J Pediatr Endocrinol Metab. 2020;33(4):475-485.
GeneReviews. 3M Syndrome. Editors: Adam MP, et al. University of Washington, Seattle.
Wang Z, Liu X, Yang J, et al. Genotype-Phenotype Correlation in 3M Syndrome: A Systematic Review and Meta-Analysis. Front Genet. 2022;13:823456.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy