Macrocephaly In Babies: Possible Causes, Diagnosis & Treatment

The causes of the condition range from congenital disorders to nutritional deficiencies.

Medically reviewed by Dr. Raashid Hamid, MS, MCH Dr. Raashid Hamid Dr. Raashid HamidMS, MCH Follow MomJunction on Linkedin Specialty: PediatricsExperience: 4 years
Written by , BSc, MBA Rohit Garoo BSc, MBA Follow MomJunction on Linkedin Specialty: Baby Health and WellnessExperience: 9 years
Edited by , BDS, CLC Dr. Ritika Shah BDS, CLC Follow MomJunction on Linkedin Specialty: Dental and General Health, LactationExperience: 10 years
Fact-checked by , MSc (Biotechnology) Vidya Tadapatri MSc (Biotechnology) Follow MomJunction on Linkedin Specialty: Health and WellnessExperience: 5 years
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A person measuring a baby's head size

Image: Shutterstock

Macrocephaly in babies is characterized by a disproportionate and abnormally large swelling of the skull. It is also known as large head syndrome or big head. Often, it is a sign of an underlying problem and can be diagnosed by measuring the baby’s head circumference and comparing it to growth charts.

Parents may be worried about the unusual appearance of macrocephaly. However, macrocephaly can be treated depending on the cause of the condition. The treatment can range from medications that help control the swelling to surgery.

Read this post to understand more about macrocephaly in babies, including the possible causes, diagnostic measures, and treatment options.


In This Article

What Is Macrocephaly?

Macrocephaly in babies

Image: Shutterstock

Macrocephaly, also called big head or large head syndrome, is a pediatric condition that causes an abnormal increase in the head circumference of the baby. Not all babies have the same head circumference. Therefore, physicians divide head circumferences into different percentiles (1).

If the circumference falls within the healthy range for their age and gender, then it is considered normal. Medical experts define macrocephaly as a condition where the baby’s head circumference (in centimeters or inches) is greater than the 98th percentile (2). There could be several reasons for macrocephaly.

What Causes Macrocephaly In Babies?

Here are a few reasons why an infant could have an enlarged head or develop one  (3):

  1. Hydrocephalus in babies is a neurological disorder that causes excessive cerebrospinal fluid to accumulate within the ventricles (spaces) of the brain, causing cerebral edema and elevated intracranial pressure (8). It is one of the most common brain disorders among infants (4). The excess fluid swells the skull. Hydrocephalus itself can occur due to several diseases ranging from congenital hydrocephalus to an injury or an infection.
  1. Nervous system infections can cause the brain and cranial enlargement. Examples include meningitis, an infection of the membrane covering the brain, and encephalitis, a severe inflammation of the brain tissue. Infections can develop due to pathogens such as bacteria and viruses.
  1. Rickets is caused due to the deficiency of vitamin D in the body. Rickets cause abnormalities of the skeletal system including bones of the skull. The skull can expand in size causing a big head (5).
  1. Brain disorders: Problems such as a brain tumor, can cause a large head in babies. Some congenital deformitiesiA structural or functional abnormality present from birth. of the brain that can cause macrocephaly are hydranencephaly (lack of cerebrum) and megalencephaly (abnormal increase in brain matter).
protip_icon Quick fact
Anatomic megalencephaly (without any metabolic disease process) is most often familial and benign (10).
Problems in the brain can cause thid condition in babies.

Image: Shutterstock

  1. Genetic disorders: Defective genes can also cause macrocephaly. One of the most notable ones is Sotos syndrome. It is a genetic disorder that affects the skeleton leading to many problems including the development of an unusually large head (6). As a result of brain overgrowth, infants with autism may also display macrocephaly on attaining toddlerhood (7)(8).

Mel, a mom of two, provides insights into head control issues her younger son, Luke, has been facing due to macrocephaly caused by a rare genetic condition. She explains, “He’s been raising his head a little. When we have him on his tummy for tummy time, he doesn’t work particularly hard!! He’s pretty laid back!!! We are working on that. He is getting more and more solid as we are picking and holding him up. I have to keep reminding myself that it will take him a while to get good head control due to the macrocephaly (i).”

protip_icon Quick fact
Fragile X syndromeiA genetic condition where the lack of a protein needed for brain development affects a person’s learning, development, and behavior. , Gorlin syndromeiA rare condition where a mutated gene affects different parts of the body and raises the risk of skin cancer. , and Cowden syndromeiA rare condition defined by benign or cancerous growths on various body parts such as the uterus, breasts, digestive tract, and skin. may also cause macrocephaly (10).

There could be situations where macrocephaly is a normal occurrence. In such cases, the baby will not display any health-related symptoms and will grow normally. There is nothing to worry about in such situations. Nevertheless, if you suspect the infant’s skull to be going out of shape and disproportionate to the body, then do not hesitate to see the pediatrician.

How Is Macrocephaly Diagnosed In Babies?

Physicians measure the height, weight, and head circumference of the infant and are likely to detect macrocephaly during a routine checkup in the first year of the baby’s life. Doctors will use the following tools to check for the underlying condition that led to a large head in babies:

  1. Physical examination: The doctor checks for the external appearance and feels the fontanelle (soft spot) on the baby’s skull. Some brain disorders like hydranencephaly can be diagnosed by illuminating the skull with a bright light. The doctor will also check for signs of internal bleeding that could suggest brain trauma.
Physical examination, Macrocephaly in babies

Image: Shutterstock

  1. Observing other symptoms: Doctors check if the baby is irritable, has poor suckling reflexes, displays extreme lethargy, has abnormal eye movements, or shows symptoms of developmental delays. These symptoms could indicate a disability-causing genetic disorder.
  1. Ultrasound: An ultrasound can give a quick analysis of what lies beneath the skull. It can help doctors decide the further course of testing.
  1. CT scan: Computerized tomography scan, or CT scan, takes multiple X-rays of the skull to create a three-dimensional image. It is useful in examining the shape of the skull and identifying any skull deformity.
  1. MRI: Magnetic resonance imaging (MRI) uses a magnetic field to generate a highly accurate and elaborate image of the entire skull. While an MRI gives a detailed picture of macrocephaly, it requires the person to stay still.

So the doctors may use a bit of sedation to keep the infant still within the MRI scanner. Several hospitals now perform a “Quick MRI” without sedation, which is advisable for pediatric patients although this form of MRI has limited image rendering capabilities (8).

  1. Blood test and fluid collection: A blood test may help assess the presence of genetic disorders in children. The doctor may even collect a sample of the cerebrospinal fluid from the base of the spinal cord, using a procedure called spinal tap. The fluid may also be obtained from the top layers of the brain depending on the condition of the skull.
Blood test may help assess the presence of genetic problems

Image: Shutterstock

Once your doctor has the diagnosis, they will recommend the best course of treatment.

How Is Macrocephaly Treated?

The treatment of macrocephaly depends on the cause of the condition. Options include:

  1. Neurosurgery is often the only option in several causes of macrocephaly. The type of surgery will vary according to the extent of swelling and the reason. For instance, hydrocephalus involves draining the cerebrospinal fluid into the abdomen where the body can absorb it. This surgery is called shunt surgery, where a silicon tube is placed in brain fluid on one side and abdominal cavity on another side. But it does not cure the condition, as hydrocephalus is a permanent condition. In the case of brain trauma, surgery may help rectify the problem entirely.
  1. The doctor may provide oral medications to control the swelling of the brain tissue. Deficiency diseases like rickets can be cured by giving the baby the right dose of the nutrient.
Oral medications may help manage macrocephaly in babies

Image: Shutterstock

  1. Macrocephaly due to genetic disorders does not have a cure and can only be managed. Several infants with incurable macrocephaly encounter some form of cognitive and physical disability along with complications like seizuresiSudden and abnormal surges of electrical activity in the brain characterized by jerking body movements and loss of consciousness. .

protip_icon Be watchful
Seek prompt medical evaluation if the baby has bulging fontanels, is feeding poorly, vomiting, sleeping excessively, or has abnormal eye movements (2).

You can contact support organizations and trainers that specialize in dealing with infants with disabilities. Such resources can help train parents about coping with the condition and improving the infant’s quality of life.

Frequently Asked Questions

1. Can a child with macrocephaly be normal?

Yes, if many individuals in your family have a large head (macrocephaly), your child is meeting overall developmental milestones, and has a normal neurologic finding, it can be considered a normal and healthy condition. However, ensure to get your baby checked for any underlying medical condition (9). A regular check-up to monitor your baby’s head circumference and other associated symptoms can help in early intervention and better outcomes.

2. What are the symptoms of macrocephaly?

In the case of benign familial macrocephaly, the child will have an abnormal head size and no other symptoms. Otherwise, you may find symptoms such as rapid head growth, poor appetite, developmental delays, bulging spaces between the bones of your child’s skull, bulging veins on the head, a downward gaze of your child’s eyes, and other conditions such as autism (9).

3. Do babies outgrow macrocephaly?

Benign familial macrocephaly or benign extra-axial collections of infancy are considered harmless, and babies usually grow out of the condition by early childhood. However, treatment is required if an underlying medical condition is present along with macrocephaly (9). In some cases, a baby may have various developmental outcomes depending on the underlying condition and may require long-term treatment.

4. How is macrocephaly in babies monitored over time?

In babies, macrocephaly is monitored by measuring head circumference at each visit and plotting it on a growth chart along with a complete developmental assessment (12). Monitoring may also include observing accompanying signs such as swollen scalp veins, widening of the cranial sutures, and a large, firm, non-pulsating soft spot in the anterior fontanel (13).

5. What are the indications for neuroimaging in cases of macrocephaly in children?

Neuroimaging is required for the diagnosis of macrocephaly in children to visualize and study the different parts of the brain affected by the condition and determine the abnormality causing the increased circumference (14). Moreover, it is also necessary when macrocephaly needs to be distinguished from megalencephaly, where brain overgrowth exceeds double the standard deviation (15).

Macrocephaly in babies may occur due to the accumulation of excess fluids inside the head, infections causing inflammation, or deficiency diseases such as rickets that affect bones. Some cases may be benign, and the child grows without any health concerns. However, it is important to seek medical advice if your child’s head keeps growing. Corrective surgery may be suggested to drain out the extra fluid or in case of trauma. Reach out to specialized trainers and other resources to ensure a better quality of life for your child.

Infographic: Possible Reasons For Macrocephaly In Babies

Macrocephaly, or abnormally large head size, may indicate an underlying health issue in the baby. Early detection and treatment are essential in managing this condition. Read through the infographic below to learn about several causes that could be responsible for the development of macrocephaly in babies.

what may cause macrocephaly (a larger head) in babies (infographic)

Illustration: Momjunction Design Team

Key Pointers

  • Macrocephaly is a health condition in which a baby’s head circumference becomes larger than usual for its age.
  • Excess brain fluid, infections, congenital brain conditions, or genetic disorders are primary causes of macrocephaly.
  • MRI, ultrasound, and CT scans are some of the methods used to examine macrocephaly.
  • The usual treatments for macrocephaly include surgery or oral medication. However, genetic conditions cannot be cured and can only be managed.


Learn about the causes of macrocephaly in children, from genetic conditions to environmental factors. Understand the facts and the risks from an expert.

Personal Experience: Source

MomJunction articles include first-hand experiences to provide you with better insights through real-life narratives. Here are the sources of personal accounts referenced in this article.

i. Loving Luke;
https://lovingluke1.blogspot.com/2010/06/

References

MomJunction's articles are written after analyzing the research works of expert authors and institutions. Our references consist of resources established by authorities in their respective fields. You can learn more about the authenticity of the information we present in our editorial policy.

1. Data Table of Infant Head Circumference-for-age Charts; Centers for Disease Control and Prevention
2. Macrocephaly; Children’s Hospital at Dartmouth-Hitchcock
3. Large Heads (Macrocephaly); The University of Chicago
4. About Hydrocephalus; Stanford Medicine
5. Vitamin D; University of Rochester
6. Sotos syndrome; U.S. National Library of Medicine
7. Macrocephaly Syndromes; University of Florida
8. Macrocephaly – an overview; ScienceDirect Topics
9. K. Rozovsky et al., Fast-brain MRI in children is quick, without sedation, and radiation-free, but beware of limitations; National Center for Biotechnology Information
10. Stephen G. Jones and Debopam Samanta; (2022); Macrocephaly.
11. Macrocephaly; Cleveland Clinic
12. Large Heads (Macrocephaly); The University of Chicago
13. Hydrocephalus; University of Hawaii
14. Emanuele Orrù et al.;The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings; American Journal of Roentgenology
15. Ai Peng Tan et al.;Macrocephaly: Solving the Diagnostic Dilemma; NCBI

 

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Dr. Raashid Hamid
Dr. Raashid HamidMS, Mch
Dr. Raashid Hamid is a consultant in the department of Pediatric Surgery at GMC hospital, Srinagar, and associate professor of Pediatric and Neonatal Surgery at SKIMS. He has four years of experience and specializes in general surgeries, including appendectomy, cholecystectomy, and exploratory laparotomy.

Read full bio of Dr. Raashid Hamid
Rohit Garoo
Rohit GarooBSc, MBA
Rohit Garoo is a writer-turned-editor with over 9 years of experience in content writing, editing, and content marketing. He did his bachelors in Science at St. Xavier's College, Hyderabad, and masters in Business Administration at Osmania University.

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Dr. Ritika Shah
Dr. Ritika ShahBDS, CLC
Dr. Ritika Shah is a certified lactation counsellor (CLC) from iNational Health Care Academy, Singapore and a dental surgeon with more than seven years of clinical experience across various cities in India. She did her graduation in Dentistry from KM Shah Dental College.

Read full bio of Dr. Ritika Shah
Vidya Tadapatri
Vidya TadapatriMSc (Biotechnology)
Vidya did her post-graduation in Biotechnology from Osmania University, Hyderabad. Her interest in scientific research and writing made her pursue a career in writing, in which she now has over five years of experience. She has done certified biotechnology-related training programs under renowned organizations such as Centre For Cellular & Molecular Biology and Department of Biotechnology.

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