Question 1

What is Cornelia de Lange Syndrome (CdLS)?

Accepted Answer

Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth. It is usually due to an acquired change mutation in one of seven important developmental genes at or shortly after conception.

Question 2

Why is it called Cornelia de Lange Syndrome (CdLS)?

Accepted Answer

In 1933, Dr. Cornelia de Lange, a Dutch paediatrician, described two children with similar features, one 17 months and the other 6 months, who were admitted within weeks of each other to Emma Children's Hospital. The first child had pneumonia. Her first year of life had been characterised by a lot of feeding difficulties and she was very small for her age, with a proportionately smaller head circumference. Dr. de Lange noted other unusual facial characteristics.

Soon after this child was discharged, a second little girl was admitted. Not only did they have common medical problems, but their resemblance to each other was remarkable. In each case the doctor described what she observed with great care and detail.
Professor de Lange followed her own advice: 'Observe closely first.' No where was the puzzled physician able to find a similar patient described in medical literature. Cornelia de Lange is now generally credited with describing the collection of symptoms comprising the syndrome that bears her name.

The syndrome is sometimes referred to as Brachmann-de-Lange Syndrome after Dr W. Brachmann, who described a similar patient in 1916. Dr de Lange may have overlooked his report because he concentrated on characteristics of the upper limbs and wrote on the facial symptoms less specifically.

Question 3

What is a syndrome?

Accepted Answer

'Syndrome' is a medical term for a condition in which there is a collection of signs (observable body changes), symptoms and/or behaviour, recognisable by a doctor’s examination. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered “diagnostic.”

Question 4

How is CdLS recognised?

Accepted Answer

The signs of CdLS may be obvious from birth or even prenatally, especially if severely involved, but may not be diagnosed until the child is older when it is milder. It causes such a broad range of potential physical, cognitive and medical challenges that it is now known as the CdLS spectrum disorder. CdLS does not discriminate— it affects both genders equally and it’s seen in all ethnic backgrounds.

It typically affects: growth, with smaller body and head size; skeletal system, with smaller hands and feet or missing forearms and fingers; development, with delayed development, intellectual disability or learning disabilities; behavior, with ADHD, anxiety or autistic features; and internal body organs including the GI, cardiac, genitourinary and neurologic body systems.

Question 5

How many people have CdLS?

Accepted Answer

The occurrence of CdLS is estimated to be 1:10,000 and 1:30,000 live births.

Question 6

What causes CdLS?

Accepted Answer

Researchers have identified seven separate genes: NIPBL, SMC1A, SMC3, HDAC8, RAD21, ANKRD11 and BRD4 genes that, when altered, cause CdLS.

Question 7

How is a diagnosis made?

Accepted Answer

The diagnosis of CdLS is primarily a clinical one based on signs and symptoms observed through an evaluation by a physician, including a medical history, physical examination and laboratory tests. However, genetic testing can be helpful in confirming the clinical diagnosis and assessing which gene is involved.

Question 8

If my child is diagnosed as having CdLS, what can I expect?

Accepted Answer

Each child will progress at their own rate as the penetrance of any phenotypic signs or symptoms is variable. Meaning that even with the same CdLs diagnosis the extent or degree the symptoms of CdLs occur or are showns will vary child to child. However, you can generally expect a slower than average rate of development. The area of speech and communication is often delayed, even in the more mildly affected. Infant stimulation programs and other developmental and therapeutic interventions are strongly recommended.

Question 9

How do I reach out to other CdLs families?

Accepted Answer

You are not alone! We can connect you with other CdLS families in your region who are facing similar challenges. Send us an email letting us know where you are located and we get you in touch with someone close to you.

Question 10

Fundraising and raising awareness

Accepted Answer

Get involved! Whether donating time, money or expertise every little bit helps. 
Events are an important and effective way to raise awareness of CdLS and to support the organisation. There are a variety of events that the CdLSA sponsors and others that are hosted by community members.

Want to help fundraise? All fundraising and donations go to sponsoring events in our communities, hosting national and internation conferences and supporting our families. You can do this in a variety of ways: 
·       Become a member. It is easy but so impactful.
·       Run for a reason. Get your friends, family coworkers and anyone else to sponsor charity running event near you. Find a run near you and create a team here AUS (https://www.runguides.com/australia/runs/fundraiser/all)or NZ
·       Host an event – these could be everything from a morning team to Quiz Night the options are endless. 
·       Or simply donate.

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