Frequently asked questions about Cornelia de Lange syndrome

 What is a syndrome?

"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.



How is CdLS recognized?

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.

As 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). 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.



Why is it called Cornelia de Lange Syndrome (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. 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.



How many people have CdLS?

The exact incidence is unclear, but it is thought to be approximately 1 in 10,000 live births.



Is life expectancy known?

It is expected that most children with CdLS will live well into adulthood; however, each child must be evaluated for life-threatening conditions such as heart defects, untreated gastroesophageal reflux, and bowel abnormalities.



Is mental retardation always present?

Usually, ranging from mild to profound. The majority fall in the mild to moderate range.



What causes CdLS?

Researches have identified genes that, wen altered, cause CdLS. Please see the genetic information for more details about these discoveries.

Genetic Information

In 2004, researchers at The Children’s Hospital of Philadelphia and the University of Newcastle upon Tyne, identified a gene (named NIPBL) on chromosome 5 that causes Cornelia de Lange Syndrome, or CdLS, when it is mutated or changed. Since then, two additional genes have been found (named SMC1A and SMC3) that cause CdLS when changed and there are likely others.

Researchers hope to gain a better understanding of why CdLS varies so widely from one individual to another and what can be done to improve the quality of life for people with the syndrome. As research continues and additional information is learned about the genes the World Federation will continue to update this site.

Why it is important to have found the CdLS genes
  • To confirm the diagnosis
  • To understand the diagnosis of CdLS, improve existing therapies, and design new medical therapies
  • To understand the role these gene changes play in development
  • To offer reassurance, through genetic testing, that other family members are not affected
  • To provide accurate information and counseling resources for future pregnancies
  • To generate broad interest about the syndrome in the medical/scientific research community


Is CdLS hereditary?

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. This gene is almost never passed on to the next generation because affected individuals seldom have children of their own. There are tests which may help resolve some of the uncertainty felt by CdLS families with future pregnancies. Genetic counseling centers are able to provide current information on testing.



Can CdLS be detected before birth?

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.



How is a diagnosis made?

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. This is best accomplished through a referral to a genetics specialist or clinic.



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

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?

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.



  
What is a Syndrome?What causes CdLS?
How is CdLS recognized?Is CdLS hereditary?
Why is it called Cornelia de Lange Syndrome (CdLS)?Can CdLS be detected before birth?
How many people have CdLS?
How is a diagnosis made?
Is life expectancy known?I think my child has CdLS; what can I do?
Is mental retardation always present?If my child has CdLS, what can I expect?

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