Acalvaria
Acalvaria
Acalvaria (/əˌkælvəˈriːə/; from Greek a- meaning "without", and Latin calvaria meaning "skull") is a rare congenital disorder characterized by the absence of the flat bones of the cranium. The condition is extremely rare, with fewer than 100 cases reported in the medical literature.
Etymology
The term Acalvaria is derived from the Greek prefix a- meaning "without", and the Latin word calvaria meaning "skull". Thus, Acalvaria literally means "without a skull".
Symptoms
Individuals with Acalvaria are born without the top portion of their skull, but usually have normal facial bones, a normal base of skull, and normal brain tissue. The brain is covered only by a thin layer of skin and soft tissues. Symptoms can include microcephaly (small head size), hydrocephalus (excess cerebrospinal fluid in the brain), and seizures.
Causes
The exact cause of Acalvaria is unknown, but it is thought to occur due to a disruption in the migration of mesenchymal cells during fetal development. These cells are responsible for forming the cranial bones.
Diagnosis
Diagnosis of Acalvaria can be made prenatally through ultrasound imaging, which can reveal the absence of the cranial bones. Postnatal diagnosis can be confirmed through computed tomography (CT) or magnetic resonance imaging (MRI) scans.
Treatment
There is currently no cure for Acalvaria. Treatment is supportive and may include management of associated symptoms such as seizures and hydrocephalus. In some cases, surgical intervention may be considered to protect the brain.
Related Terms
- Anencephaly: A severe birth defect in which a baby is born without parts of the brain and skull.
- Craniosynostosis: A birth defect in which one or more of the fibrous joints between the bones of a baby's skull (cranial sutures) close prematurely.
- Microcephaly: A medical condition in which the brain does not develop properly, resulting in a smaller than normal head.
External links
- Medical encyclopedia article on Acalvaria
- Wikipedia's article - Acalvaria
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