Cranial meningocele

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ORPHA:268820Q01.1Q01.2Q01.8
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Overview

Cranial meningocele is a type of neural tube defect (NTD) in which the meninges (the protective membranes surrounding the brain) protrude through a defect in the skull bones, forming a sac filled with cerebrospinal fluid. Unlike encephalocele, cranial meningocele does not contain brain tissue within the herniated sac. The condition is present at birth and results from incomplete closure of the cranial portion of the neural tube during early embryonic development. Cranial meningoceles can occur at various locations on the skull, including the occipital (back of the head), frontal, or parietal regions, corresponding to the different ICD-10 subcategories (Q01.0 for frontal, Q01.1 for nasofrontal, Q01.2 for occipital, and Q01.8/Q01.9 for other or unspecified sites). Clinical presentation varies depending on the size and location of the defect. Patients may present with a visible soft tissue mass on the head that may be covered by skin or a thin membrane. Key symptoms can include a palpable skull defect, potential cerebrospinal fluid leakage, and risk of meningitis. In uncomplicated cases where no brain tissue is involved, neurological outcomes are generally more favorable than in encephalocele. However, some patients may experience hydrocephalus, seizures, or developmental delays depending on associated anomalies. Treatment is primarily surgical, involving repair of the meningeal herniation and closure of the skull defect. Surgical correction is typically performed in the neonatal or early infantile period to reduce the risk of infection and further complications. Prognosis after surgical repair of an isolated cranial meningocele is generally good, with many patients achieving normal or near-normal neurodevelopmental outcomes. Multidisciplinary follow-up involving neurosurgery, neurology, and developmental pediatrics is recommended. Folic acid supplementation before and during early pregnancy has been shown to reduce the overall risk of neural tube defects, including cranial meningocele.

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Cranial meningocele.

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No actively recruiting trials found for Cranial meningocele at this time.

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No specialists are currently listed for Cranial meningocele.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Cranial meningocele.

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Common questions about Cranial meningocele

What is Cranial meningocele?

Cranial meningocele is a type of neural tube defect (NTD) in which the meninges (the protective membranes surrounding the brain) protrude through a defect in the skull bones, forming a sac filled with cerebrospinal fluid. Unlike encephalocele, cranial meningocele does not contain brain tissue within the herniated sac. The condition is present at birth and results from incomplete closure of the cranial portion of the neural tube during early embryonic development. Cranial meningoceles can occur at various locations on the skull, including the occipital (back of the head), frontal, or parietal r

How is Cranial meningocele inherited?

Cranial meningocele follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Cranial meningocele typically begin?

Typical onset of Cranial meningocele is neonatal. Age of onset can vary across affected individuals.