Cornelia de Lange Syndrome

Distinctive facial features are the hallmark of this rare disease

a child with Cornelia de Lange Syndrome

Joris/Wikimedia Commons/CC BY 3.0

Cornelia de Lange syndrome (CDLS), also known as Bachmann-de Lange syndrome, is a genetic disorder that causes a distinct appearance that is present from birth. The disease can affect multiple parts of the body and ranges from mild to severe. CDLS can be inherited; however, most cases are caused by new mutations.

So far, CDLS has been linked to mutations in the NIPBL, SMC1A, HDAC8, RAD21, and SMC3 genes. Most cases result from mutations in the NIPBL gene. Approximately 30 percent of cases are unrelated to any of these genetic mutations. The condition is estimated to affect anywhere from 1 in 10,000 to 30,000 newborns. More people may have the condition as mild cases may go undiagnosed. CDLS can be definitively diagnosed through genetic testing.

Distinct Physical Characteristics

Many of the symptoms of Cornelia de Lange syndrome are present at birth. People with CDLS have specific facial features such as:

  • Conjoined eyebrows that appear arched and well-defined (99 percent of cases)
  • Long curly eyelashes (99 percent of cases)
  • Low front and back hairlines (92 percent of cases)
  • Turned-up nose (88 percent of cases)
  • Down-turned angles of the mouth and thin lips (94 percent of cases)
  • Small lower jaw and/or protruding upper jaw (84 percent of cases)
  • Cleft palate

Other physical abnormalities which may or may not be present at birth include: 

  • Very small head (microcephaly) (98 percent of cases)
  • Eye and vision problems (50 percent of cases)
  • Excessive body hair, which may thin as the child grows (78 percent of cases)
  • Short neck (66 percent of cases)
  • 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. Those affected may have very tense muscles, trouble feeding, and a low-pitched, weak cry. Children with CDLS may also have gastroesophageal reflux as well as seizures.

Language and Behavioral Problems

Infants with Cornelia de Lange syndrome do not develop as quickly as other children. Most have mild to moderate mental disabilities, but some may be profoundly disabled (with an IQ range of 30 to 85). Because of problems with their mouths, hearing, and development, children with CDLS often begin speaking later than their peers.

Behavioral problems for children with CDLS may include hyperactivity, self-injury, aggression, and sleep disturbance. These children may also appear to have an autism-like syndrome ​due to a diminished ability to relate to other people, repetitive behaviors, difficulty with facial expression, and language delays.

Treating CDLS

Treatment focuses on addressing the symptoms of CDLS so that those affected can lead more normal lives. Infants benefit from early intervention programs for improving muscle tone, managing feeding problems, and developing fine motor skills. Mental health professionals can help manage behavioral symptoms of the condition. Children may also need to see cardiologists or ophthalmologists for heart and eye problems. Life expectancy is normal so long as the child does not have any major internal abnormalities such as heart defects.

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