Great Ormond Street Hospital for Children NHS Foundation Trust: Information for Families

Apert syndrome

This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Apert syndrome and where to get help.

What is Apert syndrome? Apert syndrome is a type of complex When more than one suture is affected, it is craniosynostosis named after the doctor who called ‘complex craniosynostosis’. This may first described it in the early 20th century. happen as part of a syndrome (collection of The skull is made up of several ‘plates’ of symptoms often seen together), and so may bone which, when we are born, are not be referred to as ‘syndromic’ as well. tightly joined together. The seams where the In Apert syndrome, both coronal sutures plates join are called ‘sutures’. fuse before birth, leading to the skull being As we grow older, the sutures gradually short from front to back but wide from side fuse (stick) together, usually after all head to side. Other sutures may also be affected growth has finished. When a child has either from birth or later. The facial bones are craniosynostosis, the sutures fuse before birth. also affected, as the cheekbones and upper It can affect one suture or several. jaw do not grow in proportion to the rest of the skull. The bones around the eyes (orbits) are wider spaced and shallower than usual, causing the eyes to bulge outwards. As well as the skull and face, the hands and feet are also Normal Skull of the Newborn affected in Apert syndrome with the fingers and toes joined or webbed (syndactyly). Frontal Bones Metopic Suture What causes Anterior Apert syndrome? Fontanelle Apert syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Coronal Research has identified the affected gene as the Suture Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This affects how certain cells in the body – including bone cells – grow, divide and die. The gene mutation can be passed on from Sagittal Parietal parent to child but in many cases develops Suture Bones sporadically (out of the blue). If it is inherited, it is passed on in an autosomal dominant manner – this means that if one parent is affected half Occipital Lambdoid Bone Suture his or her children will inherit the condition.

Sheet 1 of 3 Ref: 2015F1683 © GOSH NHS Foundation Trust July 2015 What are the signs How is Apert and symptoms of syndrome treated? Apert syndrome? As Apert syndrome can affect various areas Children with Apert syndrome have a of the body, treatment is best delivered at a characteristic appearance due to the problems specialist centre where a multidisciplinary team with the skull plates fusing and midface bones approach can be taken. The multidisciplinary not growing in proportion. If the skull plate team will usually comprise craniofacial (skull fusion is severe, pressure can build up inside and face) surgeons, neuro (brain) surgeons, the brain (intracranial pressure) which will ear, nose and throat (ENT) surgeons, require urgent treatment. There is a risk of ophthalmologists (eye specialists), audiologists developing hydrocephalus. Hydrocephalus (hearing specialists), dentists and orthodontists, occurs when the cerebrospinal fluid (CSF) is geneticists, psychologists and speech and stopped from circulating or being re-absorbed. language therapists with other specialists The CSF builds up within the ventricles (cavities) brought in as needed. of the brain resulting in increased pressure on Depending on the severity of the skull fusion, the brain. Rarely, the bones of the spine in the treatment soon after birth may be needed if neck area (cervical spine) can also be affected, pressure inside the head is raised, breathing causing a condition called Chiari malformation, problems are severe or there is a risk of eye where the base of the brain is squeezed. damage. Children will be monitored regularly Failure of the midface bones to grow can affect so that any problems are identified quickly so breathing as the airway is narrow. A small that treatment can be offered promptly. number of children also have heart problems, In many cases, initial skull re-shaping surgery which will require regular life-long monitoring. takes place within the first few years of life. A cleft palate may be present. Vision may This will involve cutting through the fused also be affected as the eyes are not protected sutures in the skull and re-shaping them to by the orbits and eyelids. Most children with give a more normal skull shape. Apert syndrome have learning disabilities or Surgery to separate the fused fingers is developmental delay, which varies from mild to carried out in several phases, often with severe. Syndactyly or fused fingers and toes is separation of the index and middle finger also a symptom of Apert syndrome. carried out first, followed by further operations to separate the other fingers. The How is Apert fused toes may not require surgery unless they are causing problems with mobility. syndrome diagnosed? Further surgery to improve the midface As children with Apert syndrome have problems will usually be carried out in late a characteristic appearance, no specific childhood, most commonly using a rigid diagnostic tests are needed. Imaging scans, external distraction (RED) frame to gradually such as x-ray, CT or MRI may be suggested to pull the affected bones forward over a period monitor bone growth before, during and after of weeks and months. The eye sockets will treatment and to check for hydrocephalus and also be re-shaped so that the eyes sit more raised intracranial pressure. deeply inside the skull so that the eyelids can close fully to protect the eyes. Hydrocephalus will need a shunt operation to divert the obstructed CSF to the abdomen. Orthodontic treatment using braces will be suggested to improve overcrowding and speech.

Sheet 2 of 3 Ref: 2015F1683 © GOSH NHS Foundation Trust July 2015 As the bone continues to grow during Further information childhood and adolescence, more surgery may and support be needed to make further corrections to the skull shape and midface area. Headlines – the Craniofacial Support Group – is the main support organisation in the UK for families of children and young people What happens next? affected by a craniofacial disorder. Visit their The outlook for children born with Apert website at www.headlines.org.uk. syndrome is variable depending on the Changing Faces is another organisation severity of their symptoms and the impact that will be able to offer help and support it has on such functions such as breathing, to anyone living with a condition that affects vision and hearing. Children with Apert their appearance. Visit their website at syndrome often have learning disabilities, www.changingfaces.org.uk or telephone their although the severity of these is variable. helpline on 0845 4500 275. Most will benefit from support in education and day to day life although a degree of independence may be possible. They require long term monitoring, particularly during period of growth in childhood and adolescence, but surgery tends to be completed by the time the child is in their late teens to early twenties. Some children and families benefit from psychological input at various stages throughout childhood and adolescence.

Compiled by the Craniofacial team in collaboration with the Child and Family Information Group Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH www.gosh.nhs.uk

Sheet 3 of 3 Ref: 2015F1683 © GOSH NHS Foundation Trust July 2015