What is Cornelia de Lange syndrome?
Cornelia de Lange syndrome (CdLS) is a developmental disorder that can affect many parts of the body.
How badly children are affected by Cornelia de Lange syndrome varies. Some children will have quite mild symptoms, and others will have quite severe symptoms.
Cornelia de Lange syndrome is a genetic disorder. So far scientists have discovered five separate gene changes or abnormalities that cause this syndrome, and there might be others. Most cases of Cornelia de Lange syndrome occur by chance. The syndrome isn’t usually inherited because people who have it rarely have children of their own.
Cornelia de Lange syndrome is rare. It happens in 1 in 10 000-30 000 births. It affects boys and girls equally.
This condition is sometimes called Brachmann-de Lange Syndrome. Dr W. Brachmann and Dr Cornelia de Lange were the first two doctors to identify this condition.
Signs and symptoms of Cornelia de Lange syndrome
Children with Cornelia de Lange syndrome can 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 (small head)
- 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
- lots of body hair
- small hands and feet
- partial joining of the second and third toes
- fifth finger curved inward
- underdeveloped genitals.
Children with Cornelia de Lange syndrome can have:
- mild to profound intellectual disability
- delayed development
- delayed speech and communication
- characteristics of autism spectrum disorder.
Children with Cornelia de Lange syndrome can show behaviour signs like:
Associated medical concerns
Children with Cornelia de Lange syndrome can have medical conditions like:
Diagnosis and testing for Cornelia de Lange syndrome
Most of the signs and symptoms of Cornelia de Lange syndrome are usually obvious at birth.
Health professionals diagnose the syndrome by looking at children’s symptoms and medical histories. They might also do physical examinations, including X-rays, and genetic testing.
Early intervention services for children with Cornelia de Lange syndrome
Although there’s no cure for Cornelia de Lange syndrome, early intervention services can improve outcomes for your child and treat his symptoms. Through these services, you can work with health professionals to support your child and help him reach his full potential.
The team of professionals involved in supporting you and your child might include paediatricians, gastroenterologists, cardiologists, audiologists, physiotherapists, speech pathologists, occupational therapists and special education teachers.
Together, you and your team can choose treatment and therapy options to best help your child.
Services and support for children with Cornelia de Lange syndrome
Learning as much as possible from your health specialists will help. It’s OK to ask lots of questions.
Many services and supports can help your child with Cornelia de Lange syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Pathfinder can help.
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Cornelia de Lange syndrome, your child can get support under the NDIS. The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, he’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs for more information.
Looking after yourself and your family
If your child has Cornelia de Lange syndrome, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.
If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.
Looking after siblings
Siblings of children with disability have good times and not so good times, just like everyone else. It’s important to find the right support for them too.