Cornelia de Lange Syndrome Health Article

Definition

Cornelia de Lange syndrome is a congenital syndrome of unknown origin diagnosed on the basis of facial characteristics consisting of synophrys (eyebrows joined at the midline), long eyelashes, long philtrum (area between the upper nose and the lip), thin upper lip, and a downturned mouth. It is a multisystemic disease that most often affects the gastrointestinal tract and the heart. Patients also present with mental retardation as well as many skeletal system malformations. It is estimated that this syndrome affects one in 10,000 newborns.

Description

This syndrome was named after the physician who described the condition in Amsterdam in 1933. It is also known as Amsterdam Dwarf Syndrome of de Lange. In 1916, another physician named Brachmann first described a more severe form of this syndrome and therefore it is also known as Brachmann-de Lange syndrome. It is known that there are three distinct categories of this condition.

The most severe form of this condition is the Type I or "classic form." Patients with this form have a prenatal growth deficiency that is also noticeable after birth. In addition these patients are marked with a distinct face and moderate to profound mental retardation. These individuals often have major deformities in the gastrointestinal tract and heart which may lead to severe incapacity or death.

The mild form of this condition is known as the Type II form. This is characterized by similar facial features to that of Type I, however, they may not become apparent until later in life. Along with a less severe preand postnatal growth deficiency, major malformations are seen at a decreased rate or may be absent completely.

Type III Cornelia de Lange syndrome, also called phenocopy, includes patients who have phenotypic manifestations of the syndrome that are related to chromosomal aneuplodies or teratogenic factors.

Genetic profile

The syndrome is suspected to be genetic in origin but the mode of transmission is unknown. Most cases are sporadic and are thought to result from a new mutation (an abnormal sequence of the components that make a gene). There is also evidence that this may be transmitted in an autosomal dominant fashion, thus if only one parent is affected there exists a 50% chance of transmitting the abnormal gene to each child. A gene of chromosome 3 may be responsible for the syndrome.