Bonnevie-Ullrich syndrome - Symptoms of Turner syndrome

The symptoms of Turner syndrome vary depending on the age of the girl or woman affected.

Babies born with Turner syndrome often have swollen hands and feet, which is caused by a build-up of excess fluid in the surrounding tissues (lymphoedema). It usually clears up soon after birth.

Other symptoms that may develop before birth include:

thick neck tissue
swelling of the neck (cystic hygroma)
being a small baby

Common characteristics of Turner syndrome

The most common characteristics of Turner syndrome are:

short height
ovaries that do not work properly

These affect over 9 out of 10 females with the condition and are described below in more detail.

Short height

Babies with Turner syndrome usually grow at a normal rate until three years of age. After this age, their growth rate will be lower-than-average.

At puberty (usually between 8-14 years), a girl with Turner syndrome will not have the normal growth spurt.

On average, adult women with untreated Turner syndrome are 20cm (8in) shorter than adult women without the syndrome. Treatment with growth hormones can reduce this difference.

Non-functioning ovaries

Ovaries are the pair of reproductive organs in females that produce eggs and sex hormones. During puberty, a girl's ovaries usually begin to produce the sex hormones oestrogen and progesterone.

However, most girls with Turner syndrome will not produce these sex hormones which means that:

unlike other girls, they may not start their monthly periods naturally
they may not fully develop breasts
they may be infertile (unable to have a baby)

Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. This will mean they are able to have a normal sex life.

Most girls need hormone replacement therapy (HRT) from around 12 years of age in order to begin puberty, including breast development and the start of monthly periods.

About three out of every 10 girls with Turner syndrome experience some physical changes naturally during puberty, and a very small number may be able to become pregnant.

Other symptoms

There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. Some of these include:

a particularly short, wide neck (webbed neck)
a broad chest and widely spaced nipples
arms that turn out slightly at the elbows
a low hairline
mouth abnormalities, which can cause problems with the teeth
a large number of moles
small, spoon-shaped nails
a short fourth finger or toe
eyes that slant downwards
droopy eyelids (ptosis)
a squint (strabismus)
lazy eye (amblyopia)
cataracts – cloudy patches in the lens (the transparent structure at the front of the eye)
short-sightedness (myopia)
low-set ears
reoccurring middle ear infections (otitis media) and glue ear during early childhood
hearing loss – which can occur in later life, is often more severe and develops earlier than the normal age-related decline in hearing

Associated conditions

Turner syndrome is often associated with a number of other health conditions. Some of these include:

Heart murmur – where your heart makes a whooshing or swishing noise between beats. This is sometimes linked to a narrowing of the main blood vessel in the heart (the aorta).
An underactive thyroid gland (hypothyroidism) – which occurs in around 10-30% of women with Turner syndrome. Regular blood tests are needed to detect it early.
High blood pressure (hypertension) – blood pressure also needs to be checked regularly.
Osteoporosis (brittle bones) – which may develop due to the lack of oestrogen. HRT can often help prevent osteoporosis.
Scoliosis (abnormal curvature of the spine) – occurs in about 1 in 10 teenage girls with Turner syndrome and should be screened for.
Diabetes – a lifelong condition that causes a person's blood sugar level to become too high.
Lymphoedema – as well as affecting unborn babies, lymphoedema can occur at any age.
Gastrointestinal bleeding (bleeding in the digestive system) – due to abnormalities in the blood vessels in the intestines.
Other digestive conditions – such as Crohn's disease and ulcerative colitis are also more common in females with Turner syndrome.
Kidney and urinary tract problems – which can increase the risk of developing urinary tract infections (UTIs).

Learning difficulties

Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties that are often overlooked by doctors. These are discussed below.

Social intelligence

About a third of girls with Turner syndrome have problems understanding social relationships due to the way their brain develops.

This can make it difficult to sustain friendships and lead to relationship problems in later life, both at home and at work.

Girls and women with Turner syndrome tend to be anxious and eager to please. This can make them vulnerable because they may be naive or lack experience in dealing with particular situations. As adults, many women with Turner syndrome prefer to work with children.

Spatial awareness and numeracy

Spatial awareness is the ability to understand where you are in relation to objects or other people. More than 8 out of 10 females with Turner syndrome have difficulty understanding spatial relationships. This may cause problems when learning to drive or when following directions on a map.

A similar number have some degree of difficulty learning or understanding maths. This is known as dyscalculia. School teachers may not fully appreciate the problem, which can cause considerable stress.

Attention and hyperactivity problems

Typically, girls with Turner syndrome will go through a phase in childhood that involves:

physical overactivity, such as constant fidgeting and restlessness
acting impulsively, such as breaking rules or having no sense of danger
having a short attention span and being easily distracted

Attention and hyperactivity problems usually begin when the girl is a toddler. However, they may not be a serious problem until the girl starts school at four or five years of age. Girls with Turner syndrome may have difficulty settling in class.

Medicines that are usually given to treat symptoms of attention deficit hyperactivity disorder (ADHD) may not be as effective in cases of Turner syndrome.

The physical hyperactivity usually reduces around the age of 11, although problems with innattention can last longer, into the teens.

Read more about children with a learning disability.