Genetic Syndromes & Genetics
Meckel-Gruber syndrome
Meckel-Gruber syndrome is a serious genetic condition that can include occipital encephalocele, kidney cysts, and extra fingers or toes.
In short: Meckel-Gruber syndrome
- It is inherited in an autosomal recessive pattern.
- It classically includes occipital encephalocele, polycystic kidneys, and polydactyly.
- It carries a poor prognosis.
- Genetic counseling is important for families.
What it is
It is a serious genetic syndrome classically defined by a triad of occipital encephalocele, enlarged cystic (polycystic) kidneys, and extra fingers or toes (polydactyly). It is one of the syndromes associated with encephalocele.
Understanding Meckel-Gruber syndrome
It is inherited in an autosomal recessive pattern, meaning a child is affected when they inherit a non-working copy of the relevant gene from each parent. It is a severe condition with a poor prognosis, which the care team discusses honestly and with compassion. Because it is genetic, genetic counseling is important to help families understand the diagnosis, the inheritance pattern, and the recurrence risk in future pregnancies. It is part of a group of conditions affecting cell structures called cilia.
Why it matters
Understanding Meckel-Gruber syndrome helps families grasp why an occipital encephalocele with kidney and limb findings prompts genetic evaluation, and why genetic counseling is offered. These conversations are difficult, and the team aims to provide clear, compassionate support.
Common questions
What features define Meckel-Gruber syndrome?
Occipital encephalocele, polycystic kidneys, and extra fingers or toes.
How is it inherited?
In an autosomal recessive pattern.
Why is genetic counseling important?
To explain the diagnosis, inheritance, and recurrence risk.
Bottom line
Meckel-Gruber syndrome is a serious autosomal recessive condition with occipital encephalocele, kidney cysts, and polydactyly, carrying a poor prognosis.
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