Macrocephaly is not a new concept, but due to its great scope, it often gets hidden from the public’s eyes. Let us read about it.


Macrocephaly is a condition or consisting of complications in the head due to which it looks oversized over the 98th percentile. Such conditions are often caused by some symptoms that are discovered on the onset of Macrocephaly.

The article will frame a comprehensive study.

The insights

If we refer to the symptoms, then it will not be wrong to say that this particular disease is, in most cases, a direct cause of some Genetic disorders, which is worsened due to an increase in age.

According to qualified and experienced doctors, it is caused by excessive fluid, which is often filled in the brain, also known as “Hydrocephalus”.

Other than the conditions of excess fluid, it is also caused by some conditions that are mentioned below-

1. Brain tumour

2. Chronic Hematomas

3. Specific infections

4. Some Genetic disorders

There are several macrocephaly syndromes, and the most common is primary (also known as infantile) and secondary Macrocephaly.

The term primary (also known as acquired) describes a condition in which the affected child has a large head, usually due to a genetic disorder or an inherited condition, such as a neurofibromatosis type 1 gene mutation.

There may be no identifiable cause in the latter case, but symptoms may include increased ICP or a swollen tongue.

There are two types of Macrocephaly: benign and acquired. The former is caused by a mutation in the TBC1D7 gene and is related to an enlarged brain. Although both are inherited, the condition is more likely to occur in children with a dominant gene. A genetic disorder often causes the latter.

The term is referred to as ‘inborn’ in medical science and does not have a definitive cure.

The first type of macrocephaly syndrome has a sole cause, while the second is an infection or disease symptom. The second type is a complication of malformation of the skull.

The first is a disorder characterized by an abnormally large head. The second is the more severe and is the most serious of all.

This form of Macrocephaly requires immediate medical care.

The second type, called primary microcephaly, involves an unusual growth pattern in the brain. Both are inherited and are caused by a genetic defect. The symptoms of the disorder may be severe or mild.

There are also many other forms, like atypical chromosomes. Sometimes the underlying causes may be different. It is why it is vital to understand the different kinds of Macrocephaly.

The third type is anatomic Macrocephaly. It is usually associated with a large brain. The head circumference of this disorder can vary significantly between parents.

A paediatrician may recommend a full examination to make sure the condition is present. In rare cases, a multidisciplinary consultation is required to diagnose this condition.

While it is possible to determine whether a child has Macrocephaly, the symptoms of the disease will depend on the exact cause.

Acute Macrocephaly is the most common form of the condition. A small brain characterizes this type of neuron dysfunction. Acute or chronic, the condition can also be fatal. Patients with this disorder should receive a thorough examination by a physician to avoid complications.

The diagnosis is usually made with the help of molecular testing and the presence of other neurological conditions.

When an infant suffers from severe hyperplasia, the child is likely to have severe developmental disabilities.

In the case of childhood, a paediatrician can diagnose Macrocephaly through a comprehensive examination. A physician will measure the child’s head size over time and perform a series of tests. These tests may include a CT scan or MRI. However, these tests may be insufficient to diagnose a child with this condition.

A paediatrician will assess the severity of the condition through other diagnostic tools, including an ultrasound.

In some cases, as we said above, the cause is genetic. Those who have a family history of this condition may be at risk. There may be a vascular malformation within the head or another disease.

If you suspect that your child has a genetic mutation, you should consult a doctor for a proper diagnosis. During the examination, focus on the cause.

Typically, a parent will need to monitor their child’s mental and physical development to determine whether their child has a macrocephaly syndrome. The symptoms of this condition include poor feeding and abnormal limb movement.

If your baby is born with macrocephaly syndrome, the parents should consult a physician to see whether a surgical procedure is necessary. If the cause of your child’s disorder is genetic, they should be tested.

Various causes of microcephaly syndromes are associated with an increase in intracranial pressure.


While it is not common, it is important to seek a diagnosis from a physician. On the same note, it is also necessary to take guidance from your respective dietician and fitness trainer, as it can cause problems while exercising.

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This article is for informational purposes and in no way supports such substance.

Hasti transformation does not support such substances; if anyone wants to consume any medicine or substance similar to them, it should be consumed after a clear prescribed method by the doctor or authorized Experts.

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