Living with 3MC syndrome
An inherited condition with distinct facial features and differences in other tissues, plus developmental delay and hearing loss.
Understanding 3MC syndrome
Facial features can include widely spaced eyes, narrow eye openings, droopy eyelids, highly arched eyebrows, and cleft lip and palate. Other common features are developmental delay, intellectual disability, hearing loss, and short stature. Less often, there are fused skull or forearm bones, an umbilical hernia, or kidney, bladder, or genital differences. It combines four conditions once thought to be separate. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft lip or palate
- Droopy upper eyelids (ptosis)
- Widely spaced eyes
- Hearing impairment
- Intellectual disability
- Slow growth after birth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: craniofacial ulnar renal syndrome; craniofacial-ulnar-renal syndrome; malpuech-michels-mingarelli-carnevale syndrome; oculopalatoskeletal syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with 3MC syndrome.
Explore research for 3MC syndrome
Explore actively recruiting 3MC syndrome studies with HealthSpark.
Find actively recruiting studies for 3MC syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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