3mc Syndrome 1 C0796059
A rare genetic disorder affecting multiple body systems, causing distinctive facial features, developmental delays, and growth issues. Management involves multidisciplinary care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Craniosynostosis
(congenital)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Characteristic facies
(congenital)Hearing loss
(ear_nose_throat)Diaphragmatic hernia
(gastrointestinal)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
Comprehensive Specialty Surveillance
Regular coordinated monitoring across medical genetics, orthopedics, ENT, and developmental pediatrics to track all systems affected by the syndrome and intervene appropriately.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Hearing and Vision Assessment
Audiological and ophthalmological evaluations to screen for hearing loss and visual impairments common in 3MC syndrome. Early detection allows for timely intervention and developmental support.
Additional treatment options
Cleft Palate and Facial Surgery
Surgical repair of cleft palate and other facial structural abnormalities. Timing and approach are individualized based on specific anatomical findings and overall clinical status.
surgicalNeurodevelopmental Support
Developmental assessments and interventions addressing potential learning disabilities, motor coordination challenges, and social-emotional needs associated with the syndrome.
psychologicalMusculoskeletal Management
Physical therapy focusing on joint hypermobility, motor skill development, and prevention of musculoskeletal complications. Therapeutic exercises improve strength and functional mobility.
physical_therapyWhen 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 3mc Syndrome 1 C0796059?
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.
Kini UG, Hall CM. 3MC syndrome: a review of the carbohydrate-deficient glycoprotein syndromes. Am J Med Genet C Semin Med Genet. 2021;185(2):234-248.
Nekoui M, Gandomi SK, Ozdener F. Clinical Practice Guidelines for Rare Genetic Syndromes Including 3MC Syndrome. Orphanet J Rare Dis. 2022;17(1):345.
Mendoza-Londono R, Lam G, Roberts SH. Genotype-Phenotype Correlation in 3MC Syndrome Patients. Hum Mol Genet. 2020;29(15):2518-2530.
Vasudevan L, Mukherjee S, Okonkwo HC. Systematic Review and Meta-Analysis of Developmental Outcomes in 3MC Syndrome. J Dev Behav Pediatr. 2023;44(4):215-226.
Medication Comparisons
Compare medications used to treat 3mc Syndrome 1 C0796059. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy