Apert syndrome Dr Trisha Macnair In Apert syndrome, premature fusion of the bones of the skull and face (craniosynostosis) leads to an abnormally shaped head and unusual facial appearance.

In this article

What causes it? Who's affected?

What are the symptoms? What's the treatment?

Advice and support

In most cases of Apert syndrome, the problem lies with a mutation in a gene (the fibroblast growth factor receptor 2 - FGFR2 - gene) on chromosome 10, which controls the production of a protein called fibroblast growth factor receptor 2 (FGFR2).

This protein helps to control the development of bones, skin and connective tissues.

The affected gene is inherited in an autosomal dominant way, which means that each child of a person with Apert syndrome has a 50 per cent chance of inheriting the condition.

However, in the past few people with Apert syndrome had children and about 98 per cent of babies with the condition are born to unaffected parents as the result of a new mutation.

This mutation usually occurs in a sperm and Apert syndrome is one of the few genetic conditions linked to older fathers, particularly men over the age of 50.

The skull is normally formed from a number of plates of bone that lock together at joints called sutures. The sutures normally allow the skull to expand as the brain grows, but in Apert syndrome they fuse early in life.

The rate and order in which different skull sutures fuse determines how the skull becomes deformed and how the child is affected. Each child is different.

Once one suture fuses, there's compensatory growth at other sutures that are still open. This distorts the shape of the skull.

One common pattern of fusion leads to underdevelopment of the middle of the face, and a short nose and upper jaw, which may cause obstruction of the upper airway.

Common problems found in Apert syndrome include:

• Abnormal shaped head and face
• Malformations of the brain
• Increased intracranial pressure
• Cleft palate
• Abnormalities of the eyes, including down-slanting palpebral fissures, hypertelorism (wide spacing), exophthalmos (protrusion)
• Low-set ears, recurrent ear infections and hearing loss
• Obstruction of the airways
• Obstructive sleep apnoea
• Cartilage problems in the trachea, leading to lower airway problems
• Learning disability
• Excessive sweating
• Severe acne

The skin and bones of the hands and feet are also fused. This is called syndactyly and is usually obvious at birth.

Abnormalities of the heart and blood vessels, gastrointestinal tract, kidneys and genito-urinary organs can also occur.

There's no cure for Apert syndrome, but much can be done to prevent or treat complications and help the child grow as normally as possible.

Any baby with abnormal features must be correctly diagnosed as early as possible to arrange the right sort of support and treatment. The child may need care from many different specialists over the years, including craniofacial surgeons, speech therapists and ophthalmologists.

One important aim of the treatment is to prevent a build-up of pressure on the brain. Surgery is often needed early in the child's life to separate the skull bones and may have to be repeated.

The shape of the skull and face may be remodelled to give a more 'normal' appearance. The fingers may be separated to improve hand movement and the toes separated if they interfere with walking.

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This article was last medically reviewed by Dr Rob Hicks in November 2007