Medical Information: Diagnostic & Treatment Protocols

Cornelia de Lange syndrome (CdLS), also known as Bachmann-de Lange syndrome, is a genetic disorder present from birth. In most individuals, CdLS is not associated with any family history of the disorder, but for others, siblings and/or parents may also have the syndrome. Researchers have identified a gene on chromosome 5 associated with CdLS.

Symptoms

Many of the symptoms of Cornelia de Lange Syndrome are present at birth. These include some or all of the syndrome's distinctive facial features:

• confluent eyebrows that appear arched and well-defined (99% of cases)
• long curly eyelashes (99%)
• low front and back hairlines (92%)
• turned-up nose (88%)
• down-turned angles of the mouth and thin lips (94%)
• small lower jaw and/or protruding upper jaw (84%).

Other physical abnormalities which may be present at birth or detected as the child grows may include:

• very small head (microcephaly) (98% of cases)
• eye and vision problems (50%)
• excessive body hair, which may thin as the child grows (78%)
• short neck (66%)
• hand abnormalities, such as missing fingers, very small hands, and/or inward deviation of the pinky fingers
• heart defects.

Infants with Cornelia de Lange Syndrome are generally born small, sometimes prematurely. The infant has very tense muscles, has trouble feeding, and may have a low-pitched weak cry.

Language and behavior problems

Infants with CdLS do not develop as quickly as other children. Most have mild to moderate mental retardation, but some may be profoundly retarded (IQ range 30-85). Because of problems with the mouth, hearing impairment, and developmental delay, children with CdLS often have speech delay. Behavior problems for children with CdLS may include hyperactivity, self-injury, aggression, and sleep disturbance. These children may appear to have autism due to a diminished ability to relate to other people, repetitive behavior, difficulty with facial expression of emotion, and language delay.

Treatment

Treatment focuses on helping each child achieve his or her potential in terms of development and language, and medical care for physical problems. Infants benefit from early intervention programs for improving muscle tone, managing feeding problems, and developing fine motor ability. Life expectancy is normal if the child was born without major internal physical malformations such as heart defects.

Information was taken from:
Tekin, M. (2002). Cornelia de Lange Syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic482.htm

Mustafa Tekin, MD , Assistant Professor of Pediatrics and Genetics, Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Turkey