Paula and Bobby
Parents of Lillie
Understanding skull related symptoms and features
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
The skull has several crucial functions: it cradles and protects the brain, supports the face and forms the head. It is a bony structure made up of the mandible and cranium.
Symptoms affecting the skull can sometimes be seen with the naked eye, especially if they affect the shape, size and structure of the head and face. Diagnosing a skull related symptom may involve different tests and assessments, both subjective and objective.
What is Macrocephaly?
Macrocephaly is defined as a larger than average head size. This means a measurement that is 2 standard deviations above the average, or larger than the 98 percentile based on an infant's age and gender.
Often a head measuring larger than average may not be cause for concern. Other times it may be due to exaggerated brain growth or it may indicate the presence of fluid or water on the brain, both of which would require further medical investigation. Macrocephaly may also be a symptom of a genetic syndrome.
What should I do next?
In some instances macrocephaly may be one of the features of a rare disease or genetic syndrome. In this case fast, targeted genetic analysis can give you a more accurate diagnosis.
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