Condition AZ: e

Also known as: 18+ syndrome; Trisomy 18

Edwards syndrome is a chromosome abnormality where the child has an extra chromosome 18 in every cell. It is a rare disorder, seen in about 1 in 4,400 live births.

In this article

What is Edwards syndrome?

Edwards syndrome is a chromosome abnormality where the child has an extra chromosome 18 in every cell. It is a rare disorder, seen in about 1 in 4,400 live births.

There are three types of the syndrome:

Children with the full form do not often survive beyond infancy, with about 10 in 100 (10%) expected to live past one year of age. Those affected by the mosaic and partial forms may sometimes survive into adulthood.

What are the symptoms of Edwards syndrome?

Characteristic features can include:

How is Edwards syndrome diagnosed?

Edwards syndrome is often detected during pregnancy (see prenatal diagnosis) and some parents opt not to continue the pregnancy. In about 30 per cent of cases (higher for affected males than females), a spontaneous miscarriage occurs.

Sometimes a baby may be born with features of Edwards syndrome after normal scans in the pregnancy. In this situation, a blood sample from the baby will be sent for karyotype analysis to confirm the diagnosis.

How is Edwards syndrome treated?

Parents should meet with the obstetric and neonatal teams to discuss the diagnosis and to prepare for delivery and the care of their baby. It is likely that the baby will be admitted to the special care baby unit, and will require supportive treatments over the first days of life.

Many babies with Edwards syndrome have a structural heart problem (see entry Heart Defects). Babies are likely to require long-term nasogastric tube feeding, and may be more comfortable if they are given medicine to prevent gastro-oesophageal reflux. In addition, these babies may also need help with breathing.

Sadly, about half of babies born with Edwards syndrome do not survive longer than one week, with about 10 in 100 expected to live past one year of age. If a baby is well enough to leave hospital, community support arrangements should be put in place, and follow-up plans made with the local paediatric team.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Edwards syndrome usually occurs as a “one-off” (sporadic), and therefore it is extremely unlikely that parents will have more than one pregnancy affected by Edwards syndrome. In rare cases, a balanced translocation in a parent can give rise to an unbalanced translocation in their child leading to a higher risk in the next pregnancy. This situation is detected on the baby’s karotype.

Prenatal diagnosis
Women are offered a combined blood test and scan between 12 to 14 weeks into a pregnancy to screen for Down’s syndrome. These tests have recently been changed to report a risk for Edwards syndrome. If a high risk is detected a chorionic villous sample or amniocentesis is offered which can diagnose Edwards syndrome.

Routine ultrasound scanning at 18 to 20 weeks can detect physical features of Edwards syndrome in over 70 per cent of cases. If an ultrasound scan suggests a high risk of a chromosome problem, a definitive genetic test to look at the baby’s chromosomes will be discussed.

Is there support for people affected by Edwards syndrome and their families?

If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

We’ve listed some support groups below and you can also meet other parents online in our closed Facebook group.

SOFT UK

Tel: 0121 351 3122
Email: enquiries@soft.org.uk
Website: soft.org.uk

The Organisation is a Registered Charity in England and Wales No. 1002918. It provides information and support for families affected by Trisomy 13 (Patau’s Syndrome), Trisomy 18 (Edwards’ Syndrome) and related disorders, including prenatal information and bereavement support. 

Group details last updated November 2016.

Credits

Medical text written October 2010 by Dr Kate Baker, Specialty Registrar in Clinical Genetics, Addenbrookes Hospital, Cambridge, UK and Dr Nora Shannon. Last updated November 2016 by Dr Nora Shannon, Consultant Clinical Geneticist, Nottingham University Hospital, Nottingham, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

Also known as: Atopic Eczema; Contact Dermatitis

If your child is affected by a disability or medical condition we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

To meet other parents see support groups below or meet other parents online in our closed Facebook group

Please see below for reliable medical information on Eczema produced by alternative providers.

NHS website
www.nhs.uk/conditions (contact dermatitis)

www.nhs.uk/conditions (atopic eczema)

Patient UK
www.patient.info/health (atopic eczema)

Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

National Eczema Society

Helpline: 0800 448 0818
Email: helpline@eczema.org
Website: eczema.org

The Society is a Registered Charity in England and Wales No. 1009671 and in Scotland No. SC043669. It provides information and support to anyone affected by eczema.  They produce a wide range of resources including an information pack for schools.

Group details last reviewed March 2023.

Eczema Outreach Support (EOS)

Helpline: Freephone 0800 622 6018 or 01505 840 395
Email: info@eos.org.uk
Website: eos.org.uk

Eczema Outreach Support (EOS) is a SCIO registered with the Scottish Charity Regulator, charity number SC042392. Eczema Outreach Support provides practical and emotional support to over 4,000 children with eczema living across the UK and their families. They provide support to parents and carers, children, young people, medical professionals and education professionals.

Group details added March 2024.

Information and support in the UK for eczema is also provided by Allergy UK (see entry Allergies).

Background

Ectodermal dysplasia (ED) is not a single disorder, but a group of closely-related conditions of which more than 160 different syndromes have been identified. They are genetic conditions affecting the development or function of the teeth, hair, nails and/or sweat glands. Some of these particular ED syndromes can also affect the skin more generally, the lens or retina of the eye, parts of the inner ear, the development of hands and feet, the mouth and palate, the nerves and other parts of the body.

Credits

Last updated July 2018 by Professor A Clarke, Professor in Clinical Genetics, Institute of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

ED can cause problems with:

  • absence or abnormality of hair growth
  • absence or malformation of some or all teeth
  • failure to develop sweat glands that results in the inability to sweat, which causes overheating
  • failure to develop other glands that are closely related to the sweat glands (such as the salivary and lacrimal glands and the breasts)
  • dryness of the eyes, leading to sore, red eyes, frequent infections, damage to the cornea and cataracts
  • reduced mucus in the nose and airways, leading to crusting and bleeding from the nose and chest infections
  • frequent infections due to immune system deficiencies or, in some cases, the inability of cracked or eroded skin to keep out disease-causing bacteria
  • absence or malformation of some fingers or toes
  • cleft lip and/or palate
  • skin pigmentation, often in irregular patches

In addition to the above, there may be problems with:

  • sensitivity to light
  • asthma, eczema and food allergies
  • a lack of breast development (in females)
  • impairment or loss of hearing or vision
  • constipation.

What are the causes?

A number of genes have been identified, with the one most commonly involved being on the X chromosome. Alterations in this gene and a few others (especially the EDAR gene on chromosome 2) cause hypohidrotic ED (in which the secretions from sweat glands and other glands are reduced or absent). Alterations in a different gene (the p63 gene) can affect the development of the hands, feet and palate as well as affecting the eyes and causing other features of ED. There are many other genes that may be involved. In most cases, each affected patient or family has a specific gene alteration in one particular gene.

How is it diagnosed?

In some cases, ED is apparent at birth from the clinical features present. In other cases, it may become evident when teeth fail to develop normally or other features are noted. Testing to identify the particular gene alteration in each patient is often feasible.

How is it treated?

Treatment for ED will involve supporting particular difficulties experienced as a result of the condition.

Individuals affected by ED may need support with:

  • feeding problems, especially in infancy and early childhood
  • dentures at a young age, with frequent adjustments and replacements
  • dental implants (artificial tooth root replacement) when older
  • advice or equipment (e.g. fans or air conditioning) to help with cooling in hot weather or in school classrooms
  • creams to keep the skin soft and to treat eczema
  • special diets to meet dental/nutritional needs or control allergies
  • wigs to conceal hair and scalp conditions (although wigs may be unhelpful for some, especially when reduced sweating is a problem).
  • devices or creams to protect from sunlight
  • eye drops to prevent damage from dryness of the cornea
  • therapies to help with breathing, such as treatments for recurrent chest infections and/or asthma.

Specialist assessment and treatment by an ophthalmologist for other eye problems may be required.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
These are variable according to the specific type of ED. Patterns include autosomal dominant, autosomal recessive and X-linked. Cases can arise as isolated (sporadic) cases within a family, when the mode of inheritance may be unclear. Genetic counselling is available for families that are affected.

Prenatal diagnosis
This is available for some types of ED, but is not possible for all families. If the mutation responsible for the ED in a family is known, then Preimplantation Genetic Diagnosis (PGD: genetic testing of an IVF conception) may be available. Both prenatal diagnosis and PGD must be arranged well in advance of a pregnancy.

Is there support?

Ectodermal Dysplasia Society

Tel: 01242 261332
Email: info@edsociety.co.uk
Website: www.edsociety.co.uk

The Society is a Registered Charity in England and Wales No. 1089135. It provides information, advice and support to those affected by an ectodermal dysplasia, promotes the education of medical professionals and general public, supports research, encourages a network for mutual support and produces a newsletter. The Society has a medical advisory board.

Group details last updated August 2021.

Also known as: Anorexia Nervosa; Binge Eating disorder; Bulimia Nervosa; Compulsive Overeating

Background

Eating habits naturally vary from person to person. Some people may develop habits that mean they use food in a way that damages their health – dieting, binging (eating excessive amounts of food) or purging themselves (being sick or using laxatives – medication to help empty their bowels). A person with an eating disorder may focus excessively on their weight and shape. In some people however, appearance may not be the main issue, there may be an element of feeling ‘in control’ by restricting food or calorie intake.

Eating disorders can affect people of any gender, age, ethnicity or social/economic background. Although they most commonly arise in females and those in the teenage years, 1 in 10 cases affect males and they frequently persist into old age.

There are several types of eating disorder:

Credits

Medical text written August 2011 by Professor John F Morgan, Yorkshire Centre for Eating Disorders, Yorkshire, UK.

What are the causes?

In most cases, there is not a single reason for an eating disorder occurring. There are several risk factors that can increase the likelihood of somebody having an eating disorder, including:

  • being criticised for their eating habits, body shape or weight
  • difficult relationships with family members or friends
  • particular experiences, such as sexual or emotional abuse or the death of someone special
  • having a family member that has suffered with an eating disorder
  • being affected by pressure from ‘society’ to be slim (eg from looking at pictures of models and celebrities)
  • certain personality traits (eg being obsessive, anxious, having low self-esteem or being a perfectionist)
  • stressful situations (eg problems at work, school or university).

Recent research suggests that genetic factors play a part in eating disorders.

How is it treated?

If it is not treated, an eating disorder can have a negative impact on someone’s job or schoolwork, and can disrupt relationships with family members and friends. The physical effects of an eating disorder can sometimes be fatal. Initially treatment may focus on correcting physical symptoms of an eating disorder. Extreme weight loss can result in loss of cognitive function so it is important that a person who is under weight is treated appropriately in order to receive further psychological help, Long-term treatment of an eating disorder will involve psychological therapy to help identify and ultimately change the unhealthy attitude to food that has developed. This may involve:

  • cognitive behavioural therapy (CBT) – aims to change patterns of thinking or behaviour that are behind people’s difficulties, and so change the way they feel
  • interpersonal psychotherapy – this is a talking therapy that focuses on the relationships a person has with family or friends
  • psychodynamic therapy – this is a type of counselling that focuses on how a person’s personality and life experiences influence their current thoughts, feelings, relationships and behaviour
  • dietary counselling – this is a talking therapy to help people maintain a healthy diet.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Not applicable.

Prenatal diagnosis
Not applicable.

Is there support?

Beat (Beating Eating Disorders)

Youthline (under 25s): 0808 801 0711 (Monday to Sunday, 4pm- 10pm)
Youthline email: fyp@b-eat.co.uk (aim to respond within 24 hours)
Adult helpline: 0808 801 0677 (Monday to Sunday, 4pm-10pm)
Adult email: help@b-eat.co.uk (aim to respond within 24 hours)
Website: b-eat.co.uk

The Association is a Registered Charity in England and Wales No. 801343. It provides information and support and a network of support groups to help adults and young people in the UK beat their eating disorders. Beat has two helplines: a Youthline for young people up to the age of 25, and an Adult Helpline. The Association offers a Transitions Project for young people in London. 

Group details last updated May 2017.