Introduction

Craniosynostosis is a rare skull problem that causes a baby to be born with, or develop, an abnormally shaped head.

The irregular skull shape in craniosynostosis can cause persistent headaches, learning difficulties, eye problems and other symptoms.Most symptomsdevelop in later childhood.

The symptoms of craniosynostosis usually result from increasedpressure within the skull, which is called intracranial pressure (ICP).

Different types of craniosynostosis can be described based on the areas of the skull affected and the resulting changes in shape.

CT scans are usually only required to plan some types of surgery or if the diagnosis is in doubt.

If your child has other birth defects that suggest craniosynostosis may be part of a wider syndrome, a sample of their blood, hair or saliva may be taken and tested for any genetic mutations.

What causes craniosynostosis?

Craniosynostosis is the result of the premature fusion of different sections of the skull. This means the skull is unable to grow inaffected areas.

When one area of the skull is prevented from growing, other areas may "overgrow" to compensate and limit the pressure developing around the brain. A lack of growth in some areas and compensatory growth in other areas will result in an altered head shape.

Craniosynostosis is usually classfied as either:

• nonsyndromic there are no other birth defects and the cause is unknown
• syndromic craniosynostosis is the result of one of severalrare syndromes

A syndrome is a range of symptoms related to a common cause, which is usuallybut not alwaysgenetic.

How common is craniosynostosis?

Craniosynostosis is rare, affecting an estimated1 in every 1,800 to 3,000 children. Three out of every four cases affect boys.

Nonsyndromic craniosynostosis is the most common form of the condition, accounting for 80-95% of all cases.

There aremore than150 different syndromes that can cause syndromic craniosynostosis, all of which are very rare. These include:

• Apert syndrome whichaffects1 in every 100,000 children and disrupts the normal growth of bone before birth, resulting in deformities of the head, hands, feet and face
• Crouzon syndromewhichaffects1 in every 60,000 children and disrupts the normal growth of bone in both the skull and the face, often resulting in severe facial disfigurement
• Pfeiffer syndromewhich affects1 in every 100,000 children and disrupts bone growth, resulting in deformities of the head and face; it also causes big toes, wide thumbs, and webbed hands and feet
• Saethre-Chotzena genetic condition that affects around in1 every 50,000 births and can cause a wide range of disfigurements, including facial defects

Treating craniosynostosis

The main treatment for craniosynostosis is surgery. This can either be carried out during the first year of your baby's life, or delayed until later childhood.

The timing of the surgery is decided by doctors, in consultation with you.

Most children with craniosynostosis recover well after surgery and the appearance of their skull improves significantly.

However, around1 in 15 children may have further problems with their skull's development as they get older, which will require further surgery to correct.

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

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