About CdLS:

Frequently Asked Questions (FAQ)

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.

The de Lange Syndrome is most commonly referred to as the Cornelia de Lange Syndrome (CdLS) but is also known as Brachmann-de Lange Syndrome. Dr. Cornelia de Lange first described this syndrome in 1933 although Dr. Brachmann wrote about a similar child in 1916.

How can CdLS be recognized?

There are no definitive biochemical or chromosome markers for the diagnosis of this syndrome. At the present time diagnosis is made on the basis of clinical observations. As with other syndromes, individuals with CdLS strongly resemble one another. The most frequently observed facial characteristics include synophrys (thin eyebrows which frequently meet at midline), long eyelashes, short upturned nose, thin, downturned lips and low set ears.

Other characteristics often associated with this syndrome include: low birth weight, delayed growth and small stature, microcephaly (small head size), hirsutism (excessive body hair), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, and feeding difficulties. Limb abnormalities, including missing limbs or portions of limbs usually fingers, hands or forearms are also found in the more severely affected.

Development and language delays are typically present in this syndrome. Mental retardation may range from mild to profound. There are some individuals who have normal or slightly below normal intelligence. Language is an area of weakness and may be compounded with hearing abnormalities.

Individuals may also be tactilely defensive or show a lack of sensitivity to pain. There is often a characteristic vocal quality in the crying of babies, which has been described as feeble or low-pitched

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. The estimated birth prevalence is between 1:10,000 and 1:30,000 live births.

Is CdLS 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. In these or similar instances CDLS may be transmitted in an autosomal dominant pattern. Twins exhibiting concordance and discordance have been reported. Possible autosomal recessive inheritance has been reported for a few families. Recurrence risk is 0.5-1.5% if parents are unaffected and 50% if a parent is affected.