CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognised at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.
'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.
As with some other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birth weight (usually, but not always, under 5 pounds), delayed growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.
Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.
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.' Nowhere 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.
The exact incidence is unclear, but it is thought to be between 1:10,000 and 1:30,000 live births.
Not with certainty. Earlier, many children died of serious medical problems in infancy because their needs were not anticipated. This is no longer the case, and it is expected that most will live into adulthood.
Usually - ranging from mild to profound. The majority fall in the moderate to severe range.
Since 2004, three genes have been identified as being responsible for causing CdLS. Dr Meredith, Clinical Geneticist and Australian Representative, International CdLS Scientific Advisory Committee has summarised these findings into everyday language for parents and those without a science background. Her reports can be found on the Medical Page.
Not in the usual sense of a gene passing directly from parent to child. It is likely that if a gene is involved, it is simply a rare and random mutation. This mutant gene is almost never passed on to the next generation because affected individuals seldom have children of their own. There have been rare instances in which mildly affected individuals have had children with the syndrome.
Not at present, although there are tests which may help resolve some of the uncertainty felt by CdLS families in future pregnancies. High resolution ultrasound may be useful to monitor for unusually poor fetal growth or detectable limb abnormalities. Genetic counselling may be able to provide current information on the development of other prenatal tests.
A thorough medical evaluation including a history and physical examination, family history, laboratory tests, X-rays and chromosome analysis is usually conducted before a diagnosis is made. Since there is no specific test for CdLS, this is best accomplished through a referral to a genetics specialists or clinic.
If you suspect that your child has CdLS, you should arrange for an evaluation by a genetics specialist. Arrangements can usually be made through your local GP or hospital.
Each child will progress at his/her own rate, but 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. Growth and development charts are available by contacting either the Secretary or your State Co-ordinator.
Professionals – attend both as presenters and audience members. Doctors, therapists, teachers and counsellors have found the CdLS Association’s more formal gatherings to be a unique source of information. CdLS is so rare, that often Doctors only ever see one patient in their professional lives, if that. At meetings they are able to examine many patients with the Syndrome in one place. This is often helpful for medical research projects, as well as for CdLS children yet to be born. Professionals are then more able to treat patients in the most effective manner. Early diagnoses of medical complications often save lives.
Conference is also the forum for revealing the results of research projects, details of surgeries which have been of benefit to children with CdLS, and therapy and teaching methods which have been found to work best.
Parents – attend for many reasons. As many of our families are geographically isolated, they do not have access to the services of their city cousins. Conference is a rare opportunity for a variety of medical specialists to see their child over a few consecutive days. Comparing notes with other parents is invaluable. These children are very similar in a myriad of ways. Parents can learn techniques of behaviour modification, teaching language skills, discovering what body language indicates their child is in pain, how others cope with public scrutiny, and many other life skills for the family. In the long run, these skills could mean the CdLS child is able to stay in the family home for longer, have a pain-free life, and continue to learn living skills to enable them to reach their full potential.
Probably the most mentioned joy of these meetings is the fellowship with other families. Siblings discover they 'aren’t the only ones' who live with a brother or sister who is difficult, and who seems to take up all Mum and Dad’s time and energy! Grandparents can share their joys and sorrows with others who truly understand. Dads are able to talk to kindred spirits, maybe for the first time since their child was born, and Mums form friendships which can last a lifetime. After conference, there is someone to call when it all seems too hard.