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Craniosynostosis: Diagnosis & Treatment in Infants
Written by Medicover Team and Medically Reviewed by Dr Kunal Babasaheb Jadhav , Neurologist
Craniosynostosis is a condition where one or more of the bones in a baby's skull close too early, before the brain has fully developed. This early fusion can cause an abnormally shaped head and increased pressure on the brain as it grows. The most noticeable early symptom is an uneven or misshapen skull shortly after birth.
What is Craniosynostosis?
Craniosynostosis is a birth defect in which one or more of the skull bones close too early, which can cause the shape of the head to be misshaped and potentially affect brain growth.
The exact cause may vary, but several factors can contribute to this condition:
- Genetic mutations change genes.
- Syndromic conditions linked with genetic disorders like Apert or Crouzon syndrome.
- Environmental influences during pregnancy such as smoking or advanced parental age.
What are the Craniosynostosis Symptoms and Warning Signs?
Recognizing the Craniosynostosis symptoms early is key to preventing further complications such as increased pressure on the brain or developmental delays.
Common Symptoms (Head and Skull Changes)
- Misshapen head: Flat, long, narrow, or uneven head shape depending on which suture is fused
- Hard ridge on the skull: A raised line that can be felt along the fused suture
- Asymmetrical facial features: Uneven eyes, ears, or jaw as the skull grows abnormally
- Bulging or early-closed fontanelle (soft spot): Either appears full or closes earlier than expected
- Slow or uneven head growth: The head may stop growing or grow unevenly as the brain expands
Immediate Warnings to Observe
- Unusual sleepiness or lethargy: Baby seems excessively drowsy or hard to wake
- Irritability or frequent crying: Especially if sudden and difficult to soothe
- Feeding difficulties: Trouble sucking, swallowing, or vomiting without cause
- Bulging fontanelle: Swelling at the soft spot, even when the baby is calm
- Eye changes: Bulging eyes or trouble looking upward
- High-pitched crying: A sharp, persistent cry that sounds different than usual
- Seizures: In rare but serious cases
- Developmental delays: Slower than expected progress in movement, speech, or learning
Some Other Possible changes
- Visible scalp veins: Prominent or bulging veins on the baby's head
- Breathing issues: Noisy or labored breathing, especially if more than one suture is fused
- Dental crowding: Misaligned or missing teeth (in certain types of craniosynostosis)
- Vision or hearing issues: Rare but possible, especially if diagnosis is delayed
What are the Different Types of Craniosynostosis?
Craniosynostosis is classified based on which skull suture fuses too early, affecting the shape of a baby's head and sometimes brain development.
Sagittal Craniosynostosis (Scaphocephaly)
- The sagittal suture on top of the head fuses early
- Causes a long, narrow head (front to back), often with a prominent forehead
- More common in boys
Coronal Craniosynostosis
- Involves one or both coronal sutures (side-to-side across the top of the head)
- Unilateral fusion (one side) causes asymmetrical forehead and eye socket
- Bilateral fusion (both sides) leads to a short, broad skull and flattened forehead
- Often affects facial symmetry
Metopic Craniosynostosis (Trigonocephaly)
- The metopic suture at the front of the head (forehead) closes early
- Creates a triangular-shaped forehead and eyes that appear too close together
- Can affect vision in severe cases
Lambdoid Craniosynostosis
- Rare form involving the lambdoid suture at the back of the head
- Leads to a flat or slanted back of the skull, often confused with positional plagiocephaly
- Can cause misalignment of the ears and neck tension
Multiple Suture Craniosynostosis
- Two or more sutures close prematurely
- Often linked to syndromic craniosynostosis (genetic conditions like Crouzon, Apert, or Pfeiffer syndrome)
What are the Common Causes and Risk Factors of Craniosynostosis?
Craniosynostosis happens when the bones in a baby's skull close too early, but the exact cause is not always known. In some cases, it may be linked to genetics, while in others, it occurs randomly.
Possible Causes of Craniosynostosis
These are factors that may directly lead to early closure of skull bones:
- Genetic mutations: Changes in certain genes, sometimes passed down in families
- Syndromic conditions: Part of genetic syndromes like Apert, Crouzon, or Pfeiffer
- Fetal pressure during pregnancy: Pressure on the baby's head in the womb may affect skull development
- Abnormal growth of skull tissues: Issues with the membranes around the brain and skull base
Risk Factors That May Increase the Chance
These don't cause craniosynostosis directly but may increase the risk:
- Family history of craniosynostosis or related conditions
- Maternal smoking or substance use during pregnancy
- Advanced maternal age
- Low birth weight or restricted growth in the womb
Understanding the possible causes and risk factors can help parents stay alert and seek timely care if needed.
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Get Second OpinionHow Craniosynostosis is Diagnosed
Craniosynostosis is typically diagnosed through a step-by-step process that includes both physical examination and imaging. Here are the main diagnostic steps:
Physical Examination
- The doctor checks the baby's head shape and size for any asymmetry or flattening
- Palpates the skull for hard ridges along the sutures
- Measures head circumference to compare with growth charts
- Evaluates facial features and soft spot (fontanelle) condition
Imaging Tests
Genetic Testing
- Recommended if the craniosynostosis appears syndromic
- Helps identify associated genetic conditions like Apert or Crouzon syndrome
- Useful for family counseling and future planning
- Usually done via blood or saliva sample
Specialist Evaluation
- Pediatric neurosurgeons and craniofacial surgeons assess the case
- Helps determine if and when surgery is needed
- Supports detailed treatment planning and follow-up
- Often part of a multidisciplinary craniofacial team
What are the Treatment Options for Craniosynostosis?
Craniosynostosis is usually treated with surgery to correct the shape of the baby's skull and allow the brain to grow normally. In some cases, a helmet or therapies may also be needed.
Surgery (Main Treatment)
Endoscopic Surgery (For babies under 6 months)
- A small cut is made to remove the fused bone.
- It's less invasive, with faster healing and less scarring.
- Usually followed by helmet therapy to shape the head.
Open Surgery (For older infants or complex cases)
- A larger surgery where the bones are reshaped.
- Done to fix head shape and relieve pressure on the brain.
- Needs a longer hospital stay but gives immediate results.
Helmet Therapy
- Used in mild cases or after endoscopic surgery.
- A custom-made helmet gently shapes the skull over time.
- Worn for several months as the baby grows.
Supportive Therapies
- Physical, speech, or occupational therapy may help if there are delays.
- Supports motor skills, language, and development.
- Often started early for the best results.
When to See a Doctor for Craniosynostosis?
Early detection of craniosynostosis is crucial to prevent pressure on the brain and to support normal skull and brain development. If you're a parent or caregiver and notice any unusual features in your baby's head shape or behavior, it's important to consult a doctor without delay.
Key Reasons to Seek Medical Help
- Abnormally shaped head (scaphocephaly, plagiocephaly, trigonocephaly)
- Hard ridge along the skull
- Bulging or absent soft spot
- Delayed physical or developmental milestones
- Vomiting, irritability, feeding issues, or seizures
Early treatment leads to better outcomes.
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What is the Recovery Process After Craniosynostosis Treatment?
Recovery after craniosynostosis surgery is a step-by-step process that focuses on healing, reducing swelling, and guiding the skull into a more natural shape.
Initial Recovery
- Swelling and bruising: It's normal to see swelling around the eyes and head, which may increase in the first few days.
- Pain management: Doctors use safe medications like paracetamol or ibuprofen to ease discomfort.
- Monitoring: Nurses keep a close eye on vital signs and may use bandages or small drains to help with healing.
- Positioning: Keeping the child's head elevated helps reduce swelling faster.
Home Recovery and Care
- Swelling will slowly go down in the first 2-3 weeks. Some puffiness may last a little longer.
- Incision care: Keep the surgery site clean and dry. Wash the hair gently and apply Vaseline if advised.
- Limit physical activity to avoid any impact to the head.
- Helmet therapy: If prescribed, the helmet must be worn as directed (often 23 hours a day) for several months. It helps shape the skull as the child grows.
- Pain relief: Continue giving pain medicine as recommended by your doctor.
- Follow-up visits: Regular check-ups are important to monitor healing and skull growth.
What Precautions Can Help Prevent Craniosynostosis?
While craniosynostosis often occurs due to genetic or unknown factors and can't always be prevented, certain precautions can support early detection and reduce complications. Taking timely steps can help ensure better outcomes for your child.
Prevention and Early Detection
- Prenatal Genetic Testing: If there is a family history of craniosynostosis or related syndromes, prenatal testing can help detect possible gene changes before birth.
- Genetic Counseling: Families with known risks can benefit from meeting with a genetic counselor to understand potential outcomes and plan for early care.
- Manage Positional Head Flattening: For babies with flat spots due to sleeping position (positional plagiocephaly), frequent repositioning and supervised tummy time can help prevent the need for intervention.
Complications If Left Untreated
- Increased Pressure in the Skull: This can cause headaches, vomiting, vision problems, and developmental delays.
- Skull and Facial Asymmetry: Uneven growth can lead to noticeable changes in appearance and may require more complex surgeries later.
- Delayed Brain Development: In severe cases, untreated craniosynostosis may impact cognitive and motor development.
- Emotional and Social Effects: Visible head shape differences can affect self-esteem and social interactions in older children.
Most children stay in the hospital for a few days and continue recovery at home. With proper care and regular follow-ups, the long-term outcome is usually very positive.
Our Experience in Treating Craniosynostosis
At Medicover we care for children with craniosynostosis with compassion, expertise, and a deep understanding of every family's concerns.
From the very first consultation to post-surgery support, our team works closely with parents to ensure each child receives the safest and most effective treatment.
With access to advanced imaging, skilled craniofacial surgeons, and dedicated rehabilitation specialists, we are here to guide your child toward a healthy, confident future every step of the way.
