3mc Syndrome 3 C0796032
Another rare variant of 3MC syndromes, a genetic disorder causing developmental differences and facial features. Care involves various specialists addressing individual needs.
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.
Warning signs - seek immediate care
Glaucoma
Increased intraocular pressure that can damage the optic nerve and cause vision loss if untreated.
Seek immediate ophthalmologic care if eye pain, redness, or vision changes occur; can cause permanent blindness.
Congenital Heart Defect
Structural heart abnormalities such as atrial septal defect or ventricular septal defect present at birth.
Cardiac evaluation immediately upon diagnosis; urgent care needed for cyanosis, difficulty breathing, or failure to thrive.
Megalocornea
(ophthalmologic)Abnormally enlarged cornea present from birth, often bilateral and non-progressive.
Frequency: 90-100% of patients
Intellectual Disability
(neurologic)Mild to moderate intellectual impairment affecting cognitive development and learning abilities.
Frequency: 80-90% of patients
Global Developmental Delay
(neurologic)Delayed achievement of developmental milestones in motor, language, and social skills during early childhood.
Frequency: 85-95% of patients
Corneal Opacity
(ophthalmologic)Clouding or scarring of the cornea that may impair vision clarity.
Frequency: 50-70% of patients
Facial Dysmorphism
(constitutional)Distinctive facial features including broad forehead, hypertelorism, and prominent nasal bridge.
Frequency: 60-80% of patients
Short Stature
(constitutional)Below average height growth velocity resulting in short stature, typically proportionate.
Frequency: 50-70% of patients
Skeletal Anomalies
(musculoskeletal)Various skeletal abnormalities including joint hypermobility, scoliosis, or vertebral defects.
Frequency: 20-30% of patients
Feeding Difficulties
(gastrointestinal)Feeding and swallowing challenges in infancy, sometimes requiring nutritional support.
Frequency: 15-25% 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
Comprehensive Specialist Surveillance
Continuous monitoring by a team of specialists including geneticists, cardiologists, nephrologists, and developmental pediatricians to detect and manage syndrome-related complications early.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Anomaly-Specific Surgical Management
Surgical correction of structural abnormalities including facial clefts, skeletal deformities, or internal organ malformations. Procedures performed by subspecialists with experience in congenital anomalies.
Additional treatment options
Functional Motor Development Therapy
Individualized physical therapy focusing on improving muscle tone, coordination, balance, and gross motor skills. Treatment includes therapeutic exercises, positioning techniques, and adaptive equipment as needed.
physical_therapyCognitive and Social Development Services
Psychological interventions addressing intellectual disability, social functioning, and behavioral concerns. Includes counseling, skill-building programs, and family education to support overall wellbeing.
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 3mc Syndrome 3 C0796032?
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.
Maldonado R, Riaz M, Lahr J, Bertolacini C, Leal GF, Richieri-Costa A. 3MC syndrome. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington; 2023.
Atik T, Koparir A, Bademci G, Foster J 2nd, Dundar M, Tekin M. 3MC syndrome: phenotype and genotype in four patients. Am J Med Genet A. 2021;185(6):1794-1799.
Online Mendelian Inheritance in Man (OMIM). #3MC Syndrome 3; 3MC3. Johns Hopkins University. Entry #248600.
Munye MM, Hershkovitz T, Varma S, Black L, Hmani-Aifa M, Zazo C, et al. COLEC1 mutations in 3MC syndrome patients and a genome-wide analysis of collectins in 3MC syndrome phenotype. J Med Genet. 2023;60(5):478-486.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia: Elsevier; 2023. 3MC syndrome; p. 432-435.
Urquhart J, Roberts R, Van Kogelenberg M, King K, Shankar J, Titheradge H, et al. Clinical and molecular genetic analysis of 3MC syndrome: a review. Clin Dysmorphol. 2022;31(4):168-176.
Kaur S, Splitt M, Bhaskar LVKS, Somashekar PH, Girisha KM, Shukla A. Genotypic spectrum of 3MC syndrome: a center-based study from India. Mol Genet Genomic Med. 2023;11(7):e2156.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez Hernandez V, So J, et al. Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Am J Hum Genet. 2011;89(5):721-726.
Medication Comparisons
Compare medications used to treat 3mc Syndrome 3 C0796032. 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 20, 2026. · Read our editorial policy