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Craniosynostosis: Causes, Symptoms, Diagnosis and Treatment

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A newborn baby’s skull consists of several bones that fit together. Usually, newborns have spaces called sutures between their skull bones. The sutures let the skull size grow to accommodate the baby’s growing brain. When the bones of the skull are fused together either at birth or fuse too soon, the condition is called craniosynostosis.

The sutures of the skull fuse around the brain at around age 2 years. When a baby has craniosynostosis, one or more of these sutures hardens too early and closes before the baby reaches age 2.

Craniosynostosis

How does craniosynostosis affect the body?

In places where sutures have fused too early, a baby’s head may stop growing. In other areas, where sutures haven’t fused, the baby’s head will continue to grow. As a result, babies with craniosynostosis often have heads that are asymmetrical (misshapen).

If a baby has multiple sutures that close too early, the brain might not have enough room to grow. As a result, these babies might experience a buildup of pressure in the skull (intracranial pressure).

What are the types of craniosynostosis?

Craniosynostosis types are based on where the sutures close:

  • Sagittal craniosynostosis affects the suture on the top of the head. Babies with sagittal craniosynostosis often have a long, narrow head (scaphocephaly).
  • Coronal craniosynostosis affects one of the coronal sutures, which run from both ears to the top of the head. Babies with this type may have a flat forehead and a broad head.
  • Lambdoid craniosynostosis affects the suture along the back of the head. Babies with this type often have a flat back of the head (plagiocephaly).
  • Metopic craniosynostosis affects the suture that runs from the top of the nose to the top of the forehead. Babies with this type may have a triangular head, with the narrow ridge at the midline of the forehead.

How common is craniosynostosis?

Craniosynostosis is uncommon. It affects about 1 in every 2,500 babies in the United States.

Sagittal craniosynostosis is the most common type of congenital craniosynostosis.

What causes craniosynostosis?

In most babies, experts can't identify one known cause of craniosynostosis. Sometimes, craniosynostosis occurs because of a sporadic (random) gene mutation (change), or it may run in families. Prematurity is a risk factor for craniosynostosis.

In other cases, some factors during pregnancy increase a baby’s risk for developing craniosynostosis. These include:

  • Fertility medications such as clomiphene citrate (Clomid®).
  • Maternal thyroid disease (developing thyroid disease while pregnant).

What are the symptoms and signs of craniosynostosis?

The primary symptom of craniosynostosis is a misshapen skull. If babies receive early surgical treatment, they may not experience any other craniosynostosis symptoms.

Other signs of craniosynostosis include:

  • No fontanelle (soft spot) on a baby’s head where the skull hasn’t closed.
  • Small, hard ridge of bone that can be felt on the baby’s head.
  • Face that looks uneven or asymmetrical.

What are the complications of craniosynostosis?

If left untreated, craniosynostosis or the resulting intracranial pressure can lead to:

  • Developmental delays.
  • Seizures.
  • Vision or eye movement disorders, such as strabismus (crossed eyes) or other disorders.
  • Breathing difficulties, especially if associated with other bony abnormalities of the face.
  • Persistent head or facial deformities.

Some children may struggle with self-esteem and body image if they have facial asymmetry or deformities. Support groups, counseling and psychotherapy can help your child foster a positive self-image.

How is craniosynostosis diagnosed?

Healthcare providers usually can diagnose craniosynostosis by feeling for soft spots on your baby’s head, feeling for ridges that signify fused skull sutures and measuring the head circumference.

If the size of your baby’s head is not growing as expected, the healthcare provider will check for craniosynostosis. It’s important to remember that a small-sized head can be due to several other reasons as well. Your baby may need an X-ray or CT scan of the head to confirm this diagnosis.

How is craniosynostosis treated?

Craniosynostosis treatment varies depending on the severity and the baby’s symptoms. Treatment may include:

  • Helmet therapy: Babies with mild craniosynostosis may wear a special medical helmet. This helmet gently reshapes the skull over time.
  • Surgery: Many babies need head surgery to reshape the skull, relieve increased intracranial pressure and allow the baby’s brain room to grow and develop properly. The surgeon determines the timing of the surgery depending on the severity of the condition and the symptoms associated. Babies might need surgery within the first year of life.

Your child may need other supportive therapies such a physical, occupational and speech therapies to support return to normal functioning and activities.

How can I prevent craniosynostosis?

There is no guaranteed way to prevent craniosynostosis. Prenatal genetic testing may show gene mutations that could lead to craniosynostosis. A genetic counselor can help you understand genetic risks and possible treatment options if your baby is born with craniosynostosis.

You can increase your chances of having a healthy baby by:

  • Scheduling regular prenatal care visits.
  • Speaking with your doctor about potential risk factors, including risks associated with fertility medications or thyroid disease.
  • Taking prenatal vitamins or other supplements as directed.

What is the outlook for babies with craniosynostosis?

Most babies who receive timely craniosynostosis treatment live a healthy life. Earlier treatment can minimize developmental problems due to pressure on the brain.

Some babies with craniosynostosis also have a genetic syndrome. Some genetic syndromes that can cause a misshapen skull and other associated abnormalities include:

  • Apert syndrome.
  • Carpenter syndrome.
  • Crouzon syndrome.
  • Pfeiffer syndrome.
  • Saethre-Chotzen syndrome.

What else should I ask my child’s doctor?

You might ask your child’s healthcare provider:

  • What is the most likely cause of the craniosynostosis?
  • What craniosynostosis treatment do you recommend?
  • What are the surgery risks?
  • What happens if we decide not to have surgery?
  • Does my baby’s head shape affect brain function?
  • What is the likelihood that I’ll have another child with the same condition?
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