Living with Meckel syndrome, type 2
A rare genetic condition present before birth with brain, kidney, liver, and finger or toe differences.
Understanding Meckel syndrome, type 2
It is characterized by a bulge of brain tissue at the back of the skull (occipital meningoencephalocele), enlarged kidneys with many cysts, liver changes, 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:
- Brain tissue bulging through the back of the skull (encephalocele)
- Kidney cysts
- Extra fingers or toes (polydactyly)
- Changes in the liver's bile ducts
- Cleft palate
- Bowed long bones
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 tmem216; meckel-gruber syndrome, type 2; mks2; mks2-related meckel syndrome; tmem216 meckel syndrome; tmem216-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 2.
Explore research for Meckel syndrome, type 2
Explore actively recruiting Meckel syndrome, type 2 studies with HealthSpark.
Find actively recruiting studies for Meckel syndrome, type 2 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Meckel syndrome, type 2 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Meckel syndrome, type 2
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Meckel syndrome, type 2 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.