Living with Meckel-Gruber syndrome
A severe genetic condition present before birth that affects the kidneys, brain, and hands and feet, among other body parts.
Understanding Meckel-Gruber syndrome
The most common features are enlarged kidneys with many fluid-filled cysts, a sac-like bulge of the brain through an opening at the back of the skull (occipital encephalocele), and extra fingers and toes (polydactyly). Most people also have scarring in the liver. Eyes, face, heart, bones, urinary system, and genitals can also be affected. It begins during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged, cyst-filled kidneys
- Brain tissue bulging out the back of the skull (encephalocele)
- Extra fingers and toes (polydactyly)
- Scarring of the liver (hepatic fibrosis)
- Small eyes and small head
- Cleft palate
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, digestive system specialists and ear, nose, and throat 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); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists)
- 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dysencephalia splachnocystica; dysencephalia splanchnocystica; gruber syndrome; meckel 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
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Meckel-Gruber syndrome.
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