Craniosynostosis

1 What is Craniosynostosis?

Craniosynostosis is a skull deformity which is present at the time of birth. It is characterized by early fusion of one or more joints in your baby's skull before complete brain development occurs, which results in an abnormally shaped head.

In some cases, it may occur secondary to an underlying brain abnormality that prevents normal brain development. Surgery is performed to separate the fused bones. In the absence of underlying brain abnormality, surgery can facilitate normal brain growth and development.

2 Symptoms

No symptoms of craniosynostosis may be apparent at the time of birth but they show up during the first few months after your baby is born.

There are seven bones in your baby's skull which normally fuse by the time your baby reaches 2. This delay permits normal growth of your baby’s brain. These bones are held together by strong and fibrous joints called cranial sutures which remain flexible until the bones fuse.

Signs of craniosynostosis include: 

  • An abnormally shaped skull 
  • Missing "soft spot" (fontanel) on your baby's skull 
  • Slow or no increase in the size of the head as your baby grows 
  • A raised, hard ridge along affected sutures 
  • Raised pressure inside the skull (intracranial pressure) 

Craniosynostosis types and characteristics 

Craniosynostosis is classified into various types depending upon the sutures affected. Here are some most common types of craniosynostosis: 

  • Sagittal synostosis (scaphocephaly): It is the most common type that affects the suture at the top of the head (sagittal suture) and is characterized by long and narrow head. 
  • Coronal synostosis (anterior plagiocephaly): It affects the suture that runs from each ear to the sagittal suture on top of your baby’s head. It is characterized by flattened forehead, raised eye socket and slanted skull. 
  • Bicoronal synostosis (brachycephaly): It affects the coronal sutures, close to the forehead. It is characterized by a flat, elevated forehead and brow. 

Rare types and characteristics 

Two less common types of craniosynostosis are: 

  • Metopic synostosis (trigonocephaly): It is a rare type that affects the suture running from nose to the sagittal suture. It causes a triangular scalp. 
  • Lambdoid synostosis (posterior plagiocephaly): It’s also a rare type and affects the suture that runs across the skull, near the back of the head (lambdoid suture). The affected side of your baby’s head may be flattened. 

An abnormally shaped head does not always mean your baby has craniosynostosis. The shape of head may be altered due to birth trauma or lying in a certain position for a long time. In such case, you may use a special helmet to help reshape your baby's head. 

When to see a doctor? 

Consult your pediatrician if you find delayed development of your baby's head or an abnormal head.

3 Causes

Craniosynostosis has two types: nonsyndromic or syndromic of which former is more common and has no cause.

Syndromic craniosynostosis affects your baby’s skull development.

It can occur as a complication of some inherited syndromes, such as Apert syndrome, Pfeiffer syndrome and Crouzon syndrome. These syndromes can also cause other conditions such as hand and foot deformities, dental abnormalities, and heart problems.

4 Making a Diagnosis

If you suspect craniosynostosis in your baby, you may schedule an appointment to receive a diagnosis. Your pediatrician may notice an abnormal head or missing soft spots in your baby’s head during a scheduled visit. 

How to prepare yourself for the visit?

Getting prepared for the visit can optimize the therapy and help make the visit more fruitful.

List out all the signs such as abnormal head shape or absence of soft spots 

Make a list of the questions to ask your doctor. Some typical questions can be: 

  • What could be the most probable cause of my baby's symptoms? 
  • Can there be other causes too? 
  • What tests are necessary for my baby? 
  • How long will this condition last? 
  • What are the treatment options, and which one seems the most appropriate? 
  • Are there any risks of surgery? 
  • What are the alternatives to surgery? 
  • Can we delay the surgery? 
  • Is this condition going to affect my baby’s brain functions? 
  • Is there any risk for my future children? 

What your doctor wants to know?

A clear talk with your doctor can optimize the therapy and improve the outcomes. Prepare yourself to answer some essential questions from your doctor. Your doctor might ask you typical questions like: 

  • When was the first time you noticed changes in your baby's head? 
  • Does your child spend more time on his or her back? 
  • What’s your baby’s sleeping position? 
  • Has your baby had any seizures? 
  • Has your baby developed as expected? 
  • How about complications with pregnancy? 
  • Do you have a family history of craniosynostosis or of genetic conditions, such as Apert syndrome and Crouzon syndrome?

Diagnosis of craniosynostosis may include: 

  • Physical exam: Your doctor runs his/her hands gently over your baby’s skull to look for any structural abnormalities such as suture ridges or other facial deformities. 
  • Imaging studies: A computerized tomography (CT) scan can be used to view your baby's skull to determine structural abnormalities in the skull. 
  • Cephalometry: This measurement technique uses X-rays to obtain a precise measurement of your baby's skull. 
  • Genetic testing: A sample of your baby’s blood may be tested to look for underlying hereditary syndrome. Samples of your baby's hair, skin or other tissue, such as cells from the inside of the cheek may also be obtained and sent to a lab for analysis.

5 Treatment

When only one suture is affected and there is no underlying syndrome (mild cases), your baby may need no treatment for craniosynostosis. As your baby grows up, the abnormal skull shape becomes less noticeable, probably due to hair growth. You may also use a special helmet to help remodel your baby's head and provide space for brain growth. 

Surgery: Surgical remodeling of your baby’s skull may be performed depending on the type of craniosynostosis and presence of an underlying syndrome. Surgery is aimed at decreasing intracranial pressure, providing space for brain growth and improving your child's appearance. The surgery team consists of craniofacial surgeon (a specialist in surgery of the head and face) and a neurosurgeon (a specialist in brain surgery). 

  • Traditional surgery: Your baby’s condition is improved by surgery that is carried out under general anesthesia. It involves remodeling the affected portion of the skull. Absorbable plates and screws may be utilized to keep the bones in proper place. Your baby needs at least three days of hospital stay after the surgery is over. If craniosynostosis recurs, a second surgery is needed. Facial deformities are corrected by a serious of surgery. 
  • Endoscopic surgery: It is less invasive and requires short time. But it is used in certain cases only. Your baby’s surgeon uses a lighted tube (endoscope) to open the suture and allow space for normal development of your baby's brain. After surgery, your baby may need hospital stay of just a day. 

Regular follow-up visits are necessary to assess development of your baby’s head after surgery. Intracranial pressure is also checked during the follow-up visits. 

6 Lifestyle And Coping

Lifestyle modifications are necessary in order to cope with craniosynostosis.

Having to look at a visible abnormality in your baby’s head is nothing less than a plunge into the depths of agony. It can give you pain, make you anxious and rob happiness off your life. But with proper coping skills coupled with positivity, you may be able to ride past the storm. Here are some tips that might help you:

  • Join a support group: Sharing your pain with the people around you gives you some emotional lift. Ask your doctor about support groups in your community or you may find it online.
  • Stay positive
  • Learn more about the condition

7 Risks and Complications

There are several risks and complications associated with craniosynostosis.

Craniosynostosis associated with an underlying syndrome, can cause increased pressure within the skull (intracranial pressure). If untreated, increased intracranial pressure can cause: 

  • Blindness 
  • Seizures 
  • Brain damage 
  • Death, in rare instances 

Moreover, facial deformities in the middle of your child's face may cause: 

  • Upper airway obstructions, limiting breathing in your baby
  • Permanent head deformity 
  • Problems with speech and language development 
  • Poor self-esteem
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