Living with Meckel syndrome, type 3
A rare genetic condition present before birth with kidney cysts and differences in the brain and liver.
Understanding Meckel syndrome, type 3
Features include kidney cysts and a range of other signs, such as a bulge of brain tissue at the back of the skull, liver duct differences and cysts, and extra fingers or toes on the pinky side. GARD refers to MKS1 for a fuller description.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cysts in the kidneys (multicystic dysplasia)
- Brain tissue bulging through the back of the skull
- Enlarged liver
- Liver bile duct changes
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent. GARD does not name a gene in this record.
Also known as: meckel syndrome caused by mutation in tmem67; meckel-gruber syndrome, type 3; mks3; tmem67 meckel syndrome; tmem67-related meckel syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Meckel syndrome, type 3.
Explore research for Meckel syndrome, type 3
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