I guess many of you won’t have a clue what Cornelia de Lange Syndrome (CdLS) is, so just in case you’re remotely interested I’ll elaborate here in layman’s terms (rather than using all that fancy medical jargonese). I’m not a medical professional (although sometimes, given our circumstances, I DO feel like I am!) and so the following information has been gleaned from the books and papers received from the CdLS foundation.
Please don’t use this information as medical advice. If you or a loved one are in need of support and information there’s lots of information available out there on the web (although please be very careful what sites you visit – make sure they’re reputable) and there are organisations who may be able to help…but I strongly suggest you consider approaching a suitably qualified medical professional in the first instance.
Cornelia de Lange Syndrome is a rare genetic congenital syndrome which, current statistics suggest, affects around one in 40,000 to one in 100,000 live births (that’s 100 times rarer than having a child with Down’s syndrome).
…So that’s really pretty rare!
In 1916 Dr W. Brachmann, a German Paediatrician, wrote a paper about a patient with specific characteristics. In 1933, Dr Cornelia de Lange, a pioneering Dutch Paediatrician, also wrote a paper which described two children with similar features to Dr Brachmann’s patient. In the medical world, the syndrome is commonly termed as Cornelia de Lange Syndrome or CdLS however, it’s also been referred to as Brachmann de Lange Syndrome or even Amsterdam Dwarfism.
Currently, no one knows what causes CdLS and diagnosis is normally through genetic evaluation. It appears there’s a lot more to be learned about the syndrome including all the genes that are affected.
The syndrome has serious physical and developmental implications, but from what I’ve read and been told isn’t life limiting in itself, however, there are a number of associated medical conditions which could lead to death including twisted bowels, intestinal obstructions and malrotation, pneumonia, heart defects, congenital diaphragmatic hernia and insufficient lung developments due to prematurity.
CdLS usually affects people in a number of ways, which can include:
- Birth weight, growth and small head size called microcephaly (The CdLS foundation have developed their own growth and developmental charts for our children as they possibly won’t develop and grow like an average child) – these can be downloaded from the web.
- Developmental delay
- Learning disability
- Gastroesophageal reflux disease (research suggests that around 85% of people with CdLS are affected) – left untreated, this can lead to very serious complications.
- Behavioural issues – self injury (head banging, hand biting), attention deficit disorder, hyperactivity or autistic like behaviours. Sensory processing disorders, repetitive behaviours, heightened or diminished sensitivity to touch or temperature.
- Orthopaedics – sometimes missing portions of limbs (most usually upper limbs, fingers, hands or forearms). Small hands and feet, partial joining of the second and third toes (webbed toes), proximally placed thumbs, fixed flexion contractures. Legs and feet can also be affected – club foot, absence of a portion of the foot or leg, knee flexion contractures (bent knees), bunions, abnormality of the hip, scoliosis (curvature of the spine).
- Feeding or swallowing issues – could possibly be triggered by a sensitivity to temperature, texture or taste of food or environmental factors such as light, noise, room temperature or social aspects like who’s feeding the child/who’s present at the time.
- Heart defects – most commonly being ventricular septal defect, atrial septal defect, patent ductus arteriosus and tetratology of fallot.
- Ear, nose and throat problems – chronic sinusitis, nasal polyps, inflammation of the ear canal,
- Bowel abnormalities
- Hearing loss and glue ear
- Problems with sight/eye ailments – chronic conjunctivitis, inflammation of the eyelash and lid, recurrent red eye, near sightedness,
- Hirsuitism (excessive body hair)
- Communication difficulties, limited or no verbal skills.
- Cleft lip and palate/high arched palate.
- Small jaw development, crowded teeth, extra or missing teeth, small teeth.
- Food allergies – like lactose, casein or gluten intolerance.
- Motor development – sitting up and walking etc.
- Most children strongly resemble one another because of their strong facial characteristics: they can have long eyelashes, a short upturned nose, down turned lips and low set ears.
- It’s been suggested that individuals with CdLS appear to age more rapidly than their peers.
- People affected by CdLS may have a very high pain threshold.
If you’re in the UK or Ireland and need more info on CdLS then please have a look at www.cdls.org.uk or if you’re in the USA please go to www.cdlsusa.org. No doubt there will be other organisations worldwide and I’m really sorry I can’t include them all here for you.
With thanks to Jackie at the UK and Ireland CdLS foundation for supplying me with information past and present