DDX3X syndrome

DDX3X syndrome is a rare genetic condition caused by a change in the DDX3X gene. 

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What is DDX3X syndrome?

DDX3X syndrome is a rare genetic condition caused by a change in the DDX3X gene. 

Genes are instructions that tell the cells that make up our body how to work and grow. They're stored in structures called chromosomes. The DDX3X gene is on the X chromosome, which is one of the chromosomes that determines whether someone is born male or female. 

Who does DDX3X syndrome affect?

The syndrome is usually only found in girls and women. This is because females have 2 copies of the X chromosome, one from each parent. This means if the DDX3X gene on one of their X chromosomes doesn't work properly, the working gene on the other X chromosome can partly make up for it. This means females can survive with the condition, although they will have the symptoms of DDX3X syndrome. 

Males have only one X chromosome. If their single DDX3X gene doesn't form properly in the womb, they usually don’t survive long enough to be born. This is why finding DDX3X in men and boys is extremely rare. 

These gene changes are called mutations, they happen randomly before birth and are not passed down from parent to child, or caused by anything anyone did.  

Scientists have estimated that DDX3X syndrome accounts for between 1 to 3% of learning disabilities in women and girls, but many people with the condition may be undiagnosed or misdiagnosed as having another condition such as cerebral palsy, or Rett syndrome. 

Emma who has cerebal palsy being pushed in her wheelchair by her carer in a botanical garden

How does DDX3X syndrome affect people?

DDX3X syndrome almost always causes a learning disability , although the severity ranges from mild to severe.
Every individual is different, and so the full range of symptoms can vary from person to person. The other symptoms someone with DDX3X might have include:

  • Difficulty feeding
  • Communication impairments (Non-verbal or limited speech)
  • Developmental delay
  • Behavioral difficulties (including ADHD/ autism )
  • Hypotonia (low muscle-tone)
  • Joint problems (Joint laxity and/or scoliosis)
  • Movement disorders (Such as unusual walking gait)
  • Seizures
  • Vision and hearing difficulties
  • Gastrointestinal issues.

Help and support for living with DDX3X syndrome

There is no cure for DDX3X syndrome, as the effects of the genetic change take place during a baby's development. However, knowing the diagnosis means that proper monitoring and treatment plans can be put in place.

DDX3X syndrome is a complex condition- every individual with it is different, and will require a unique treatment plan.

Children with DDX3X syndrome should be under the care of a paediatrician, who can monitor their growth, development, speech, and behaviour. By engaging in ongoing conversations with medical professionals, a health plan can be put in place. This might include a combination of physio-occupational, behaviour, and speech therapies.

With the right support network in place, there is nothing to stop people with DDX3X syndrome from living happy and fulfilling lives.

For more information about DDX3X syndrome, you can visit the DDX3X website  or the DDX3X Support UK website. 

For general advice for living with a learning disability, you can contact the Learning Disability Helpline to chat to one of our friendly and informed advisors.

Questions and answers about DDX3X syndrome

DDX3X is a lifelong condition that affects everyone differently.  With the right support people with DDX3X can improve their quality of life over time. Supports such as speech therapy, physiotherapy, educational programmes, may all be options.  

DDX3X is usually caused by random genetic variance. This means the risk of someone with DDX3X having a child who also has DDX3X is no higher than it would be if they did not have the condition. If you are planning a family, a clinical geneticist may be able to give you advice. 

You could tell them that DDX3X syndrome is a rare genetic condition that affects brain development, and how this affects the person is different for everyone. If a friend or family member is particularly interested, it might be helpful to send them information such as this web page, or the DDX3X Support UK page. 

Visit the DDX3X Support UK page

This depends on the individual, and how their condition affects them on a day-to-day basis. Some people who have mild symptoms may be able to live in the community with support from family or regular check-ins from professionals. Other people may need more direct and consistent support. With proper support systems in place, there is nothing to stop people with DDX3X syndrome living happy and fulfilling lives. 

Start by going to your GP and explaining your concerns, they can refer you to a specialist who will be able to carry out tests. Diagnosis involves a genetic test that looks for changes in the DDX3X gene. Receiving a diagnosis can take time, but it is worth being persistent, as a diagnosis makes it easier to get the right support systems in place.  

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Thank you to the National Lottery Community Fund for their generous grant, funding this work.