What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome (CdLS) is a lifelong genetic condition that can affect growth and development in many parts of the body.

Cornelia de Lange is caused by changes in at least 5 different genes. There might be other genes involved too. Almost all cases of Cornelia de Lange syndrome occur by chance.

Cornelia de Lange syndrome is a rare condition. It happens in 1 in 10,000 births.

This condition is sometimes called Brachmann-de Lange Syndrome. Dr W. Brachmann and Dr Cornelia de Lange were the first doctors to identify it.

Signs and symptoms of Cornelia de Lange syndrome

The signs and symptoms of Cornelia de Lange syndrome can vary from mild to severe.

Physical characteristics
Children and teenagers with Cornelia de Lange syndrome might have the following physical features, although physical signs vary from child to child:

• low birth weight, delayed growth and small stature
• limb defects, mainly of the arms and hands, including missing fingers or parts of limbs
• microcephaly
• a lot of body hair
• small hands and feet, partial joining of the second and third toes, and a fifth finger that curves inward
• hearing loss
• vision impairment
• cleft palate
• underdeveloped genitals and undescended testicles.

These physical characteristics also include facial features like arched eyebrows that often join up in the middle (synophrys), long eyelashes, short and upturned nose, thin and downturned lips, a long groove above the top lip, small and widely spaced teeth, and low-set, unusual ears.

Cognitive signs
Children and teenagers with Cornelia de Lange syndrome can have:

• moderate to severe intellectual disability
• delayed development
• delayed speech and communication
• characteristics of autism.

Behaviour signs
Children and teenagers with Cornelia de Lange syndrome can show behaviour signs like:

• self-stimulation
• aggression
• self-injury
• a strong liking for familiar routines.

Associated medical concerns
Children and teenagers with Cornelia de Lange syndrome can have medical conditions like:

• mild to severe reflux, vomiting, poor appetite, constipation and diarrhoea
• seizures
• heart defects
• feeding problems
• gut malformations and blockages.

Diagnosis and testing for Cornelia de Lange syndrome

Many of the signs and symptoms of Cornelia de Lange syndrome are obvious at birth.

Health professionals diagnose the syndrome by looking at children’s physical characteristics, symptoms and medical histories. They might also do other examinations including X-rays and genetic testing.

Early intervention services for children with Cornelia de Lange syndrome

If your child has Cornelia de Lange syndrome, early intervention is the best way to support their development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.

Early intervention should also include helping you learn how to spend time with your child in ways that support their development. For example, it might include helping you to learn about using sign language. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you and other carers can help your child a lot.

You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals might include audiologists, cardiologists, gastroenterologists, occupational therapists, paediatricians, physiotherapists, special education teachers and speech pathologists.

Working in partnership with your child’s professionals is very important. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.

Financial support for children and teenagers with Cornelia de Lange syndrome

If your child has a confirmed diagnosis of Cornelia de Lange syndrome, you might be able to get support from the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. The NDIS might also fund things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

It’s important to look after yourself physically, mentally and emotionally. If you take care of yourself, you’ll be better able to care for your child.

If you need support, you could start by talking with your GP. Your GP is there to give you and your child ongoing care and support.

A genetic counsellor might be able to help you understand how the change in your child’s genes happened. They can also help you learn about the condition and adapt to having a genetic condition in your family.

You can also get support from organisations like Cornelia de Lange Syndrome Association (Australasia), Genetic Alliance Australia and Genetic Support Network of Victoria.

Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group

If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.