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Cornelia de Lange Syndrome - Pictures, Symptoms, Life Expectancy, Treatment

Updated on December 1, 2013

Cornelia de Lange Syndrome Pictures

What is Cornelia de Lange Syndrome?

This is a genetic disorder that is present at birth. Although it is present at birth many times it is not diagnosed at this time. Children born with this medical condition have a wide range of cognitive, medical and physical challenges. It is considered a multiple congenital anomaly syndrome and is rare. It affects both males and females equally. It is also seen all ethnic backgrounds and races. The occurrence of Cornelia de Lange syndrome is on in ten thousand live births. This medical condition has also been referred to as Amsterdam dwarfism, Bachmann-de Lange syndrome, and Bushy Syndrome. It was first document by W. Brachmann in 1916 but is named after a Dutch pediatrician Cornelia de Lange in 1933 that did a follow up case.

Symptoms

Many of these symptoms are present when the baby is born and may include all or just some of the following facial features that are distinctive.

  • The baby may have confluent eyebrows which will be well-defined and appear to arch.
  • Eyelashes that are long and curly.
  • Hairlines that are low in the back and front.
  • Thin lips and mouth with turned down angles.
  • Protruding upper jaw or small lower jaw.
  • Cleft palate
  • Testicles that are undescended.

As the child grows older or even at birth, there may be other physical abnormalities such as:

  • Having a very small head referred to as microcephaly.
  • Vision and eye problems
  • Body hair that is excessive but may thin as the child gets older
  • Short neck
  • Having abnormalities of the hands such as hands that are very small, inward deviation of their pinky fingers, or missing fingers
  • Defects of the heart

Most babies born with Cornelia de Lange syndrome are born small. Sometimes they are born prematurely. They may have trouble feeding, a weak cry that is low-pitched, and muscles that are tense.

Behavioral and language problems

  • Mild to moderate mental retardation with some profoundly retarded with IQ’s ranging from thirty to eighty-five.
  • Speech delay due to hearing impairments, developmental delays, and mouth problems.
  • Hyperactivity
  • Aggression
  • Self injury
  • Sleep disturbances
  • Difficulty with facial expressions, especially emotions
  • Language delay
  • Repetitive behaviors
  • A diminished ability to relate to others.

Causes

It is thought that the cause of Cornelia de Lange syndrome is genetic but researchers do not know how it is transmitted. In ninety-nine percent of the cases of Cornelia de Lange syndrome it is not inherited. Most of the cases are sporadic and happen spontaneously to genetic mutations. These cases are thought to happen because of new mutation. There is also evidence that it could be transmitted in an autosomal dominant pattern. This means when one parent is affected the child has a fifty percent probability of having the abnormal gene transferred to them. It is more common to see the woman transmitting the gene but generally it is only the mild form that they seem to transfer. Researchers have identified one of the genes that is associated with this medical disease and that is a gene found on chromosome 5 but there are others such as SMC3, HDAC8, and the SMC1A.

Treatment

At this time it is not curable so the treatment focuses on help the child to achieve their potential in terms of language and development. Treatment also includes medical care for their physical problems. Having an early intervention program will help them benefit from improving their muscle, developing fine motor skins, and managing any feeding problems. Most of the time, treatment is done according to what their present symptoms are. For adults with this condition they may need supervised working and living situations. If there any abnormalities or defects such as a heart defect, they may need surgery. They may also need speech therapy, social vocation, and education support.

Life Expectancy

If a child with Cornelia de Lange syndrome is born without any major internal physical malformations the life expectancy would be ten to twenty years shorter than someone without this medical condition. How long they will actually live depends largely on their general health and their level of care.

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