What is Cornelia de Lange syndrome?
Cornelia de Lange syndrome (CdLS) is a genetic disorder 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. The syndrome is rarely inherited because people who have it rarely have children.
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. Some children have mild symptoms, and others have severe symptoms.
Children 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
- facial features that include 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
- 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.
Children with Cornelia de Lange syndrome can have:
- moderate to severe intellectual disability.
- delayed development
- delayed speech and communication
- characteristics of autism.
Children with Cornelia de Lange syndrome can show behaviour signs like:
- a strong liking for familiar routines.
Associated medical concerns
Children with Cornelia de Lange syndrome can have medical conditions like:
- mild to severe reflux, vomiting, poor appetite, constipation and diarrhoea
- 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
Early intervention is the best way to support your child’s 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. 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 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 paediatricians, gastroenterologists, cardiologists, audiologists, physiotherapists, speech pathologists, occupational therapists and special education teachers.
It’s good to see yourself as working in partnership with your child’s professionals. 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 with Cornelia de Lange syndrome
If your child has a confirmed diagnosis of Cornelia de Lange syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child with Cornelia de Lange syndrome, it’s important to look after your own wellbeing too. 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 or a genetic counsellor. 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.