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Frequently Asked Questions

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

CdLS USA Foundation: Facts About CdLS
In 1933, Dr. Cornelia de Lange, a Dutch pediatrician, 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 characterized by a lot of feeding difficulties and she was very small for her age, with a proportionately smaller head circumference. Other unusual facial characteristics were noted by Dr. de Lange.

What is Cornelia de Lange Syndrome (CdLS)?

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.

Why is it called Cornelia de Lange Syndrome?

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.

How is CdLS recognized?

CdLS USA Foundation: Facts About CdLS
CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly).

What causes CdLS?

CdLS USA Foundation: Facts About CdLS
Researchers have identified genes that, when altered, cause CdLS. Please click here for more information about these discoveries.

Is CdLS hereditary?

CdLS USA Foundation: Facts About CdLS
Not in the usual sense of a gene passing directly from parent to child. Genetic changes (called mutations) occur in individuals with CdLS that typically are not present in their parents, meaning that a new change developed in those individuals resulting in CdLS. In a few rare families who have more than one child with the syndrome, each of the children with CdLS has had the same mutation, which has not been found in any unaffected family members.

Why is it called Tourette's Syndrome?

Tourette's Syndrome FAQ
It is named after Dr. Georges Gilles de la Tourette, a French doctor. The first reported case of Tourette syndrome was made in 1825 by Dr. Itard, another French doctor. In 1885, Dr. Gilles de la Tourette described nine patients with the syndrome of multiple motor and vocal tics. It is named after him because he was the first to describe these patients as having a movement disorder.

Can you Mélange?

Mélange Internationale - Social Gatherings for Single...
Making friends & building community in NYC is challenging, but it really doesn't have to be. New Yorkers need to relax. Mélange Internationale celebrates the New York City lifestyle by bringing folks together who are interested in meeting people of all ethnicities. We provide the activities, food and atmosphere then let nature take its course. The New York City lifestyle can be a wonderful blessing if you are part of a positive community.

Can CdLS be detected before birth?

CdLS USA Foundation: Facts About CdLS
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 counseling centers are able to provide current information on the development of other prenatal tests.

I think my child has CdLS; what can I do?

CdLS USA Foundation: Facts About CdLS
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 physician, hospital, or university medical center.

If my child has CdLS, what can I expect?

CdLS USA Foundation: Facts About CdLS
Each child will progress at his/her own rate, but you can generally expect a slower than average rate of physical and cognitive 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 through the Foundation.

How is CdLS recognised?

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.

Why do we go to CdLS Conferences?

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.

What is Asperger's Syndrome?

Autism Society of America: Autism FAQ
What distinguishes Asperger's Syndrome from autism is the severity of the symptoms and the absence of language delays. Children with Asperger's may be only mildly affected and frequently have good language and cognitive skills. To the untrained observer, a child with Asperger's may seem just like a normal child behaving differently. They may be socially awkward, not understanding of conventional social rules, or show a lack of empathy.

What is a Syndrome?

CdLS USA Foundation: Facts About CdLS
Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it.

What is HELLP Syndrome?

Preeclampsia FAQ
HELLP Syndrome occurs in 4 percent to 12 percent of the women who have preeclampsia. It is one of the most severe forms of preeclampsia. HELLP stands for: hemolysis, elevated liver enzymes, and lowered platelets. HELLP Syndrome most often affects the liver, causing stomach and right shoulder pain. HELLP Syndrome is most dangerous because it can occur before you exhibit the classic symptoms of preeclampsia. It is often mistaken for the flu or gallbladder problems.
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