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What is Cornelia de Lange syndrome?
Cornelia de Lange syndrome (CdLS) is a developmental disorder that can affect many parts of the body.
Cornelia de Lange syndrome is a genetic disorder. So far scientists have discovered changes in five separate genes 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.
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
How severely children are affected by Cornelia de Lange syndrome varies. Some children have quite mild symptoms, and others have quite severe symptoms.
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, and a fifth finger that curves inward
- hearing impairment
- vision impairment
- cleft palate
- 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:
- 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
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 the treatment and therapy options that will best support 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, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
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.
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, these siblings of children with disability need to feel that they're just as important to you - that you care about them and what they're going through. It's important to talk with them, spend time with them, and find the right support for them too.