Turner syndrome – what are the signs and symptoms of Turner syndrome?

Turner syndrome
Turner syndrome

Turner syndrome is a genetic disorder that affects about 1 in every 2,000 baby girls and only affects females.

A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two (XX).

This chromosome variation happens randomly when the baby is conceived in the womb. It is not linked to the mother’s age.

 

Characteristics of Turner syndrome

Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome:

are shorter than average

have underdeveloped ovaries (female reproductive organs), resulting in a lack of monthly periods and infertility

As height and sexual development are the two main characteristics, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years.

Other characteristics of Turner syndrome can vary significantly between individuals.

 

Treating Turner syndrome

There is no cure for Turner syndrome, but many of the associated symptoms can be treated.

Girls and women with Turner syndrome will need to have regular health checks of their heart, kidneys and reproductive system throughout their lives. However, it is usually possible to lead a relatively normal and healthy life.

Life expectancy is slightly reduced, but it can be improved with regular health checks to identify and treat potential problems at an early stage.

 

Edwards’ syndrome – so what is Edwards’ syndrome and why do we need to know?

Edwards' syndrome
Edwards’ syndrome

Introduction

Edwards’ syndrome, also known as trisomy 18, is a serious genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body.

Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents, but a baby with Edwards’ syndrome has three copies of chromosome number 18, instead of two.

This disrupts the baby’s normal development and, in many cases, causes them to be miscarried or stillborn.

Babies with Edwards’ syndrome will have grown slowly in the womb and will have a low birthweight, along with a number of other serious medical problems. Of those that survive to birth, around half will die within two weeks and only around one in every five will live at least three months.

Around one in every 12 babies born with Edwards’ syndrome survive beyond one year, and they will live with severe physical and mental disabilities. Some children do survive to early adulthood, but this is very rare.

Edwards’ syndrome affects around one in 3,000 to 6,000 live births.

What are the features and symptoms?

Babies with Edwards’ syndrome can have a wide range of different problems.

Physical signs of Edwards’ syndrome include:

a small, abnormally shaped head

a small jaw and mouth

long fingers that overlap, with underdeveloped thumbs and clenched fists

low-set ears

smooth “rocker bottom” feet (with a rounded base)

cleft lip and palate (a gap or split in the upper lip and/or the roof of the mouth)

an exomphalos (where the intestines are held in a sac outside the tummy)

Babies with Edwards’ syndrome also typically have:

heart and kidney problems

feeding problems – leading to poor growth

breathing problems

hernias in the wall of their stomach (where internal tissues push through a weakness in the muscle wall)

bone abnormalities – such as a curved spine

frequent infections of the lungs and urinary system

a severe learning disability

How does Edwards’ syndrome happen?

Edwards’ syndrome is rarely inherited and the condition is not caused by anything the parents have done.

The development of three copies of chromosome 18 usually happens randomly during the formation of eggs and sperm. There is an error in the division of cells, and the extra chromosome is either in the egg cell produced by the mother or in the sperm cell produced by the father.

As this happens randomly, it’s extremely unlikely for parents to have more than one pregnancy affected by Edwards’ syndrome.

The chance of having a baby with Edwards’ syndrome increases with the mother’s age.

Types of Edwards’ syndrome

There are two main types of Edwards’ syndrome.

Full form

Approximately 94% of babies with Edwards’ syndrome will have the full form, where every cell in their body has three copies of chromosome 18, instead of two. Most babies with this form will die before infancy.

Mosaic trisomy 18

About 5% of babies with Edwards’ syndrome will have the extra copy of chromosome 18 in only some of their body cells. This less severe form of the disease is known as mosaic trisomy 18.

The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. Some babies may only be mildly affected, while some can be severely disabled.

Around seven in every 10 babies born with mosaic trisomy will live for at least a year and, in rare cases, babies with the condition may survive into early adulthood.

Testing for Edwards’ syndrome during pregnancy

Pregnant women are offered screening for Edwards’ syndrome between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition.

The screening test, known as the combined test, comprises a blood test plus a nuchal translucency ultrasound scan (nuchal translucency is a collection of fluid at the back of the baby’s neck). This test also screens for Down’s syndrome and Patau’s syndrome.

Read more about screening for Edwards’ syndrome at 10-14 weeks.

Later in pregnancy, usually when you are 18 to 21 weeks pregnant, you will also be offered a scan that looks for physical abnormalities and 11 rare conditions, including Edwards’ syndrome.

Read more about the mid-pregnancy scan.

If the screening tests show that you have a higher risk of having a baby with Edwards’ syndrome, you will be offered diagnostic tests to find out for certain if your baby has the condition.

The diagnosis can be confirmed by carrying out chorionic villus sampling or amniocentesis. These are invasive tests performed during pregnancy to remove a sample of tissue or fluid so it can be tested for the presence of the extra copy of chromosome 18.

A newer test has also been developed that can be performed by taking a sample of blood from the mother and testing the baby’s DNA that is found within it. This is known as “non-invasive prenatal diagnosis” and is only available privately.

Read more about screening tests in pregnancy.

Is there any treatment?

There is no cure for Edwards’ syndrome and the symptoms can be very difficult to manage. You are likely to need help from a wide range of health professionals.

Treatment will focus on immediately life-threatening issues, such as infections and heart problems. Your child may also need to be fed through a feeding tube, if feeding is a problem.

If limb abnormalities affect your child’s movements as they get older, they may benefit from supportive treatment, such as physiotherapy and occupational therapy.

Depending on your child’s specific problems, they may need specialist care in hospital or a hospice, or you may be able to look after them at home with appropriate support.

What testing your DNA can tell you

Do I need to test my DNA?

Good question.

A fair few medical conditions have a genetic component. Breast cancer and celiac disease for two example.

Them there are other condition like autism where the jury is still out but it does seem a strong possibility!

So it can be worth checking. This infographic gives you a bit more information on DNA testing should you chose to do so!

What Can Your DNA Tell You

From Visually.

Prader-Willi syndrome -what are the signs and symptoms of Prader-Willi syndrome?

Prader-Willi syndrome -what are the signs and symptoms of Prader-Willi syndrome?
Prader-Willi syndrome -what are the signs and symptoms of Prader-Willi syndrome?

Prader-Willi syndrome

Introduction

Prader-Willi syndrome (PWS) is a rare genetic condition that causes a wide range of problems.

These may include:

a constant desire to eat food, which seems driven by a permanent feeling of hunger and can easily lead to dangerous weight gain

restricted growth, leading to short stature

reduced muscle tone (hypotonia)

learning difficulties

lack of sexual development

behavioural problems, such as temper tantrums or stubbornness

Read more about problems associated with Prader-Willi syndrome.

What causes Prader-Willi syndrome?

Prader-Willi syndrome is caused by a genetic defect on chromosome number 15, which happens purely by chance.

The condition is rare, affecting no more than one in every 15,000 children born in England. Boys and girls of all ethnic backgrounds may be affected.

Read more about the causes of Prader-Willi syndrome.

Diagnosing Prader-Willi syndrome

Prader-Willi syndrome can usually be confirmed by carrying out genetic tests.

A checklist of symptoms that are typical of Prader-Willi syndrome is often used to identify children who should be tested.

Read more about how Prader-Willi syndrome is diagnosed.

Living with Prader-Willi syndrome

There’s no cure for Prader-Willi syndrome, so treatment aims to manage the symptoms and associated problems. For parents, this includes dealing with their child’s excessive eating and behavioural problems.

Trying to get your child to stick to a healthy, balanced diet and maintain a normal weight is one of the most important parts of caring for a child with Prader-Willi syndrome. It’s also probably one of the most challenging and frustrating.

If children are allowed to eat as much as they want, they’ll quickly become dangerously overweight. A child with the syndrome can eat three to six times more than other children of the same age and still feel hungry.

However restricting a child’s diet is not easy. They can be highly obsessive when it comes to eating, and their hunger can cause them to hide or steal food.

Read more about managing Prader-Willi syndrome.

Outlook

While Prader-Willi syndrome itself isn’t life- threatening, the compulsive eating and resulting weight gain can be.

Young adults with the syndrome often develop obesity-related conditions usually seen in older adults, such as type 2 diabetes and heart failure. If the obesity isn’t treated, a person with the syndrome will probably die a lot younger than would normally be expected.

Compulsive eating can also cause health problems such as an abnormally expanded stomach and choking. Due to the potential risk of choking, all parents of a child with Prader-Willi syndrome are advised to learn the Heimlich manoeuvre.

Read more about what to do if someone is choking.

If a child with Prader-Willi syndrome is able to follow a restricted diet and control their weight, there’s no reason why they can’t enjoy a good quality of life and take part in activities such as voluntary or part-time work. However, because of their behavioural problems and learning difficulties, it’s unlikely they’ll be able to live fully independent lives.

Huntington’s disease – what are the signs, symptoms and treatments of Huntington’s disease?

Huntington's disease
Huntington’s disease

Huntington’s disease is an inherited condition that damages certain nerve cells in the brain.

This brain damage gets progressively worse over time and can affect movement, cognition (perception, awareness, thinking, judgement) and behaviour.

Early features can include personality changes, mood swings, fidgety movements, irritability and altered behaviour, although these are often overlooked and attributed to something else.

Read more about the features of Huntington’s disease.

Huntington’s disease was originally called Huntington’s chorea (“chorea” is the Greek word for dancing). This is because the involuntary movements associated with the condition can look like jerky dancing. However, “disease” is now the preferred term, because the condition involves a lot more than just abnormal movements.

Huntington's disease is caused by an inherited faulty gene. However, in around 3% of cases, there's no family history of the condition, normally because the parents died at a young age.

Read more about the cause of Huntington's disease.

Diagnosing Huntington's disease

If you have symptoms of Huntington's disease, your GP will refer you to a specialist clinician (usually a neurologist) if they feel your symptoms need further investigation.

The specialist will ask about your symptoms to assess how likely it is that you have Huntington's disease and to rule out similar conditions.

They may also test a number of physical functions, such as your eye movements, balance, control, movement and walking. Your speech and cognition may also be tested. All of these can be affected by Huntington's disease.

Genetic testing can be used to confirm the diagnosis.

Read more about how Huntington's disease is diagnosed.

Treating Huntington's disease

There's no cure for Huntington's disease and its progress can't be reversed or slowed down.

As the condition progresses, it may put a strain on family and relationships. Treatments for Huntington's disease aim to improve any mood disturbance; this is done to maintain skills used in daily living that can deteriorate over time.

Medication can help manage some of the symptoms, such as irritability or excessive movement. Therapies such as speech and language therapy and occupational therapy can help with communication and day-to-day living.

Support is also available for the family of a person with Huntington's disease. This includes, for example, testing family members who don't have any of the condition's features (manifest) to see whether they carry the gene, or help with choosing a suitable care home in advanced cases.

Read more about how Huntington's disease is treated and living with Huntington's disease.

Huntington's disease usually progresses and gets worse over a 10-25 year period from when it first appears, before the person eventually dies from it. During the condition's later stages, the person will be totally dependent and need full nursing care.

Death is usually from a secondary cause, such as heart failurepneumonia or another infection.

Who's affected by Huntington's disease?

Both men and women with a family history of Huntington's disease can inherit the condition. Symptoms usually start to appear during adulthood.

Juvenile (children's) Huntington's disease develops before the age of 20. Only 5-10% of people with Huntington's disease develop it at a very young age, and the pattern of features may be different.

It was previously thought that 4-6 people in a population of 100,000 were affected by Huntington's disease. However, UK research carried out in 2012 found the actual figure for those affected by the condition to be about 12 people per 100,000.

It's thought that the number of people who have the Huntington's gene and are not yet affected is about twice that of those who have symptoms.

Current research

Research is underway to find disease-modifying medication and new treatments for the features of Huntington's disease.

Exciting progress has been made in identifying potential ways of slowing down or halting the condition by "switching off" the faulty gene that causes Huntington's disease.

See our page on clinical trials for Huntington's disease for details of the clinical trials that are currently running. You can find out more by visiting the European Huntington's Disease Network.

Information about you

If you have Huntington's disease, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

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

Find out more about the register.