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Diseases » Megalencephaly » Summary

What is Megalencephaly?

What is Megalencephaly?

  • Megalencephaly: Abnormally large brain.

Megalencephaly is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Megalencephaly, or a subtype of Megalencephaly, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Megalencephaly as a "rare disease".
Source - Orphanet

Megalencephaly: Introduction

Types of Megalencephaly:

Types of Megalencephaly:

  • Unilateral megalencephaly (hemimegalencephaly) - one-sided expansion.
  • more types...»

Broader types of Megalencephaly:

Who gets Megalencephaly?

Patient Profile for Megalencephaly: Can occur at birth or later in life.

Profile for Megalencephaly: Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. (Source: excerpt from NINDS Megalencephaly Information Page: NINDS)

Gender Profile for Megalencephaly: Males more than females.

How serious is Megalencephaly?

Prognosis of Megalencephaly: The prognosis for individuals with megalencephaly largely depends on the underlying cause and the associated neurological disorders. The prognosis for those with hemimegalencephaly is poor. (Source: excerpt from NINDS Megalencephaly Information Page: NINDS)

What causes Megalencephaly?

Causes of Megalencephaly: see causes of Megalencephaly
Causes of Megalencephaly: Megalencephaly is thought to be related to a disturbance in the regulation of cell reproduction or proliferation. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is formed in the proper place at the appropriate time. (Source: excerpt from NINDS Megalencephaly Information Page: NINDS)

What are the symptoms of Megalencephaly?

Symptoms of Megalencephaly: see symptoms of Megalencephaly

Megalencephaly: Testing

Diagnostic testing: see tests for Megalencephaly.

Misdiagnosis: see misdiagnosis and Megalencephaly.

How is it treated?

Doctors and Medical Specialists for Megalencephaly: Neurologist ; see also doctors and medical specialists for Megalencephaly.
Treatments for Megalencephaly: see treatments for Megalencephaly

Organs Affected by Megalencephaly:

Organs and body systems related to Megalencephaly include:

Name and Aliases of Megalencephaly

Main name of condition: Megalencephaly

Other names or spellings for Megalencephaly:


Megencephaly, Head enlarged, Macrocephaly Source - Diseases Database

Macrocephaly, mental retardation and facial dysmorphism, Fryns Dereymacker Haegeman syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Megalencephaly: Related Conditions

Research the causes of these diseases that are similar to, or related to, Megalencephaly:


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