What are the causes and treatment options for macrocephaly?

Symptom Database

Macrocephaly, also known as an oversized head or abnormal head size, is a condition characterized by an unusually large head circumference or cranial size. It can be a result of various factors, including genetic conditions and neurodevelopmental disorders. In this article, we will explore the causes of macrocephaly and discuss the available treatment options.

Causes of Macrocephaly

Macrocephaly can be caused by a range of factors, including:

  • Genetic Conditions: Certain genetic conditions, such as Sotos syndrome, Beckwith-Wiedemann syndrome, and neurofibromatosis type 1, can lead to abnormal brain growth and macrocephaly.
  • Neurodevelopmental Disorders: Conditions like autism spectrum disorder and developmental delay can be associated with macrocephaly.
  • Hydrocephalus: This condition occurs when there is an accumulation of cerebrospinal fluid in the brain, leading to increased head size.
  • Metabolic Disorders: Some metabolic disorders, such as mucopolysaccharidoses and Tay-Sachs disease, can cause abnormal brain growth and macrocephaly.
  • Other Causes: In some cases, macrocephaly may be idiopathic, meaning the cause is unknown.

Treatment Options for Macrocephaly

The treatment for macrocephaly depends on the underlying cause and the presence of any associated symptoms. Here are some common treatment options:

Monitoring and Observation

In cases where macrocephaly is not associated with any other symptoms or developmental delays, monitoring and observation may be the only necessary course of action. Regular head measurements can help track the growth rate and ensure there are no significant changes over time.

Medical Interventions

If macrocephaly is caused by an underlying medical condition, treatment may focus on managing that condition. For example:

  • Hydrocephalus: If hydrocephalus is the cause, a surgical procedure called a shunt may be performed to drain excess cerebrospinal fluid and relieve pressure on the brain.
  • Metabolic Disorders: Treatment for metabolic disorders may involve enzyme replacement therapy, dietary modifications, or other specific interventions depending on the condition.

Early Intervention and Therapy

For children with macrocephaly and associated developmental delays or neurodevelopmental disorders, early intervention and therapy can play a crucial role in their overall development. This may include:

  • Physical Therapy: Physical therapy can help improve motor skills and coordination.
  • Occupational Therapy: Occupational therapy focuses on enhancing daily living skills and fine motor skills.
  • Speech Therapy: Speech therapy can assist with language development and communication skills.

Supportive Measures

Supportive measures can be beneficial for individuals with macrocephaly and their families. These may include:

  • Educational Support: Providing appropriate educational support and accommodations can help children with macrocephaly reach their full potential.
  • Support Groups: Joining support groups or connecting with other families facing similar challenges can provide emotional support and valuable insights.


Macrocephaly, characterized by an oversized head or abnormal head size, can be caused by various factors, including genetic conditions and neurodevelopmental disorders. The treatment options for macrocephaly depend on the underlying cause and associated symptoms. Monitoring and observation, medical interventions, early intervention and therapy, and supportive measures are some of the approaches used to manage macrocephaly. If you suspect your child has an abnormal head size, it is important to consult with a healthcare professional for a proper diagnosis and appropriate management.

Haroon Rashid, MD
Rate author
Urgent Care Center of Arlington, VA
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