Many people with Down syndrome have certain physical challenges in common, but which person is impacted and to what extent is often as unpredictable and random as the rest of society.

Home 9 Health

Not all people with Down syndrome have medical conditions. Many are born fit and healthy. However, it is important to know about potential medical conditions so that we don’t miss treatable conditions which would make life harder for someone with Down syndrome.

Like everyone else, people with Down syndrome may have a range of medical conditions and need the same medical care as everyone else and they will learn to adapt their lives around the condition.

The list of potential medical issues can be overwhelming for most families but it is important to note that many of these issues may never materialise or may only have a minor impact.  Having annual health checks is important for treatable medical conditions associated with Down syndrome.

However, we think it is helpful for families and other stakeholders to know what challenges people with Down syndrome have in common, so you can look out for them, get them checked out and respond to them if there are any concerns.


  • Often people with Down syndrome need glasses.
  • Children with Down syndrome are more likely than other children to have squints and blocked tear ducts than other children.
  • People with Down syndrome are more likely than others to have cataracts or keratoconus (thinning of the cornea).
  • Seek advice from your optometrist or eye specialist on how often eye checks should be performed.


  • Most children with Down syndrome have too much fluid in their middle ear which can develop into ‘glue ear’. This causes hearing loss (like listening underwater) which varies day by day.
  • Many children need grommets; small tubes to drain the fluid.
  • Hearing loss can also occur due to a problem in the nerves of the ear.
  • Deafness that comes with age may start earlier in people with Down syndrome.
  • Hearing should be tested at least every two years.


  • Babies and children with Down syndrome grow slower than other children.
  • Teenagers and adults with Down syndrome are usually short and may gain weight easily.


  • People with Down syndrome generally have poor immunity.
  • They easily pick up coughs, colds and other infections.


  • People with Down syndrome often need medicines for this.


  • People with Down syndrome may have dry skin which easily gets a mottled pattern. Some get boils.

Atlanto-axial instability

  • This is a weakness between the bones at the top of the neck and means that pressure on the neck could cause spinal cord injury.
  • Whenever people with Down syndrome have surgery, anaesthetists should remember they could have atlanto-axial instability and take care when extending their necks.
  • People with atlanto-axial instability may develop neck pain, have problems going to the toilet, drag their feet and have increased tone.
  • The atlanto-axial instability is sometimes seen on special neck X-rays.
  • People with atlanto-axial instability should avoid strain on the neck (e.g. diving or trampolining)

Coeliac Disease

  • Coeliac disease is a reaction to gluten. It causes bowel and growth problems and can be treated by a gluten-free diet.
  • If coeliac disease is suspected, the person may have blood taken to test for specific antibodies that, if found, are suggestive of coeliac disease when other symptoms are present. A formal diagnosis is then confirmed by a small bowel biopsy.
  • Some symptoms may include nausea or vomiting, irritable bowel symptoms either – diarrhoea or constipation, bone & joint pain, difficulty concentrating, Vitamin B12, A, D E and K deficiencies, weight loss and skin rashes.


  • Thyroid symptoms are often put down to having Down syndrome.
  • People with Down syndrome should have their thyroid levels checked every year. Most people with Down syndrome have hypothyroidism (underactive thyroid) but some can have hyperthyroidism (overactive thyroid)

High pain threshold

  • People with Down syndrome often don’t make a fuss even when they are badly hurt. This is important to be aware of in case they complain about aches or pains, and it is important to look out for other signs that they may be hurting.

Sleep Apnoea

  • People with Down syndrome may stop breathing for short periods when they are asleep. This can disturb sleep and cause tiredness and irritability during the day.

Alzheimer Dementia

  • Adults with Down syndrome have a higher chance than others of this and it may start at an earlier age.

Autistic Spectrum Disorders

  • Some children with Down syndrome may be on the autistic spectrum. They may have language, behaviour or social difficulties, which can be improved with specific therapies.


  • Pre-schoolers with Down syndrome have about a 1% chance of developing this, often acute megakaryoblastic leukaemia, which is very rare in other children. It usually responds well to treatment.

Congenital disorders

  • Just over half of children born with Down syndrome are born with a health issue; usually a congenital disorder of their heart, bowel, eyes or blood.
  • These are never anyone’s fault or due to anything a mother did or didn’t do during pregnancy.
  • Information from years ago may not be relevant and you should always seek out information from the last five years.
  • Treatment and outcomes for babies have improved dramatically.
  • Congenital disorders can often be corrected by surgery and cause no further problems.

Congenital heart disorder

  • Sometimes babies with Down syndrome seem perfectly well but have major heart defects, which can lead to serious problems if not treated.
  • It is very important that all babies have their hearts checked carefully soon after birth by an echo. Echo is short for echocardiogram; an ultrasound scan of the heart.
  • Echos show that:
  • 55% have a healthy heart with no defect
  • 20% have a severe and unusual atrioventricular septal defect (AVSD). These can almost always be operated on successfully with open-heart surgery.
  • 25% have another heart defect, usually a form of ‘hole in the heart’. Some are minor and need no treatments, others need surgery.

“We found out about our son’s heart defect when he was three days old. He was given a routine echocardiograph. The results were not good; a complete atrioventricular septal defect. The term was completely foreign to me. He was my eighth child; all the rest had been completely “normal”. I had a lot to learn. Any sadness I felt at this baby having Down syndrome paled significantly when I found out about his heart. I just wanted my child to live and I knew I would love him.”

“We are really celebrating the successful closure of the hole in our four-year-old’s heart. She’s home with energy to burn, running, climbing, laughing, talking – it’s just wonderful.”

Other congenital disorders

  • About 10% of babies are born with a bowel disorder, usually duodenal atresia, imperforate anus, Hirschsprung’s disease or trachea-oesophageal fistula. All these disorders cause blockage in the bowel so the babies are often very unwell and need to be in a neonatal intensive care unit. They often need major surgery.
  • A few babies are born with congenital cataracts. If untreated vision cannot develop properly.
  • Babies often have unusual blood results at birth and about 10% have a transient form of leukaemia.

“For at least the first 14 days of his life, we as a family were embroiled in our son surviving his initial health problems, which entailed a bowel operation at 5 days old. This directed our thoughts and feelings towards his survival, rather than dwelling on him having Down syndrome.”

Useful Links on health related issues for people with Down syndrome

Down Syndrome International

Here are some bitesize introductions to key health issues for children with Down syndrome.

Down Syndrome Clinic to you

We’re here to help you. We know it may not be easy to get expert medical care for your loved one with Down syndrome. Every time your loved one has a wellness visit with their primary care provider, DSC2U is here to help. 

Adult Down Syndrome Center

The Adult Down Syndrome Center has served the medical and psychosocial needs of over 6,000 teens and adults with Down syndrome. In 2012, they committed to expanding their research and education efforts, which include providing the resources on their website.