Facts about Cornelia de Lange Syndrome

What is Cornelia de Lange Syndrome (CdLS)?

"Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems related by the patient) recognizable by a doctor's exam. Although individuals with the syndrome may not have all of the signs and symptoms, they will have enough to be considered "diagnostic." Individual signs and symptoms may be seen in people without the syndrome.

In 1933, Dr. Cornelia de Lange, a Dutch pediatrician, described two children with similar features. She 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.

How can CdLS be recognized?

As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birth weight (usually, but not always, under five 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.

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.

What is the incidence of CdLS?

The exact incidence is unclear, but it is thought to be between 1:10,000 and 1:30,000 live births.

Is the life expectancy known?

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.

Is there always mental retardation?

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

What causes CdLS?

At present, the cause is not clearly known, although it is suspected that a gene may be responsible. At present there are several research programs underway which are attempting to find answers to the cause of CdLS.

Does that mean CdLS is hereditary?

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.

Can CdLS be detected before birth?

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 counseling centers are able to provide current information on the development of other prenatal tests.

How is a diagnosis made?

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 specialist or clinic.

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 is diagnosed as having 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 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.