Cornelia De Lange Syndrome: Symptoms, Causes & Treatment

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Cornelia de Lange syndrome (CDLS) is a syndrome of multiple congenital anomalies which affects both the physical and intellectual development of a child. Read out article to get information about causes, symptoms and treatment of this syndrome.

Cornelia de Lange syndrome (CDLS) is a rare developmental disorder which affects most of the parts of the body and the intensity may vary from mild to severe. The disorder has been named after a Dutch pediatrician of the same name, as he did a lot of research on this field. The condition is characterized by typical facial features like slow growth before and after birth, intellectual disability, excessive hair and heart defects, skeletal abnormalities and the facial differences include long eyelashes, widely spaced teeth and a small upturned nose.

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Children who are affected by Cornelia de Lange syndrome may suffer from behavior problems that affect the communication and social interaction. Some of the children are found to suffer from cleft lip and palate. Few children have behavioral pattern quite similar to an autistic child. Among the affected individuals, the features can vary. It is estimated that Cornelia de Lange syndrome likely affects 1 in 10,000-30,000 newborns. Some defects which are reported with this condition include seizures, eye problems, skeletal problems and heart defects.

Causes of Cornelia De Lange Syndrome:

Cornelia de Lange syndrome can be caused by various reasons. The causes include:

  • The syndrome is a birth defect caused due to various gene mutations.
  • They also regulate the activity of some genes in the developing of face, limbs and other parts of the body.
  • This syndrome can be caused by mutations in genes which disrupts the regulation of the gene during critical stages of early development.
  • The proteins that formed from these genes are responsible for the development before birth.
  • It can take place equally in both males and females.

Symptoms of Cornelia De Lange Syndrome:

Many of the symptoms of this syndrome are present at birth. These symptoms include some or all of the distinctive facial features:

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

Other physical abnormalities which may be present at birth or detected after the growth of child may include:

  • Eye and vision problems (50%)
  • Short neck (66%)
  • Partial joining of the second and third toes
  • Cleft palate
  • Gastroesophageal reflux
  • Feeding difficulties
  • Bowel abnormalities
  • Developmental delay
  • Seizures
  • Heart defects
  • Very small head (microcephaly) (98% of cases)
  • Excessive body hair, which may thin as the child grows (78%)
  • Hand abnormalities, for example missing fingers, very small hands, and/or inward deviation of the pinky fingers

Generally, infants with Cornelia de Lange syndrome are born small, sometimes ahead of time. The infant has trouble feeding, has very tense muscles, and may have a low-pitched weak cry.

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Language and behavior problems:

The development of infants with CDLS not occurs as quickly as other children. Most infants have mild to moderate mental retardation, however some may be deeply retarded (IQ range 30-85). Children with CDLS often have speech delay due to problems with the mouth, hearing impairment, and developmental delay.

For children with CDLS, behavior problems may include hyperactivity, self-injury, aggression, and sleep disturbance. Because of a diminished ability to relate to other people, repetitive behavior, difficulty with facial expression of emotion, and language delay, these children may appear to have symptom similarity with autism.

Life Expectancy:

The exact life expectance is not known. Many children died of serious medical problems in infancy as their needs were not anticipated. It is anticipated that most will live into adulthood.

How is this Syndrome diagnosed?

Children who suffer from this syndrome are often found shorter than the rest of the family and no medical tests are available that verify the presence of this disorder and is generally diagnosed by a genetics specialist which conduct various physical as well as laboratory tests that help in the diagnosis of this disease.

Cornelia de Lange Syndrome Treatment:

Till date, no complete treatment is available for this genetic disorder. However, a child is treated depending on the severity of this disorder. Several therapies are conducted which help to decrease the discomfort of the child and make sure that he/she leads a partially normal life. The treatment plan includes the following:

Medical care:

For psycho motor delay, the various interventions should be emphasized on.

  • Perceptual organizational tasks should be emphasized.
  • Tactile stimulation helps the children to remember and perform maximally.
  • Fine motor activities should be stressed in education especially activities associated to daily living.
  • Computer programs that emphasize on visual memory are more advantageous than the simple verbal instruction.

Surgical Intervention:

For the following conditions, surgery can be performed:

  • Pyloric stenosis
  • Undescended testis
  • Nasal polyps
  • Hip discolorations
  • Lacrimal duct stenosis
  • Intestinal malrotation
  • Cleft lip and cleft palate
  • Gastroesophageal reflux

Home Remedies:

Some ways are provided below which help to raise a child suffering from this syndrome:

  • Firstly, find a team of trusted professionals who incorporate teachers and therapists as they know the resources for children with such disabilities.
  • Also, search for other families struggling with the challenges of this syndrome.
  • Learn about the disorder because this helps you to understand your child better and know his/her attempts to communicate.
  • Aromatherapy and massage are also advantageous for the children and youngsters who suffer from CDLS.
  • Music therapy sessions are very helpful and miraculous.
  • Basil, eucalyptus, frankincense, myrrh, peppermint and tea-tree oil are very well known oils.
  • Before being applied to the skin directly, these oils should be blended with sunflower oil.
  • Children may suffer from feeding problems in case of cleft lip and palate.
  • Feed the babies in an upright position because this prevents the regurgitation of the food back into the food pipe.
  • Provide lots of fresh fruits and vegetables in the form of juice.
  • They may be inclined to many infections like cough and cold, so protect them from such infections by providing a balanced diet.
  • Make the child to feel as normal and acceptable even with this disorder as this may provide the child a sense of well being.
  • Children who lack of certain senses are promoted to play with equipment that helps to stimulate those senses.

Consultations:

If a child suffers from this syndrome, specialists need to be consulted include neurologist, hearing specialist, ophthalmologist, nephrologist, gastroenterologist and nutritionist, cardiologist, and geneticist.

Prevention:

Before the birth of the baby, genetic disorders cannot be prevented if couples can go for newborn screening. Many procedures are being used by people including:

Preimplantation genetic diagnosis: It is a test where the researchers can screen specific chromosomes for certain diseases. These tests can prevent from passing the genetic defect onto another child and also limit the number of implantation failures and unprompted abortions.

Karyomapping: It is the other technique which is used by doctors to detect both chromosomal abnormalities and single gene defect with a single test.

These technologies will continue to become extensive, especially the new techniques like karyomapping.

Cornelia De Lange Syndrome Treatment with Dr. Oswal’s G Therapy (www.g-therapy.org) video from Youtube:

Cornelia de Lange Syndrome Awarenes video from Youtube:

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  • Steve

    my cousin has cdls… 6 yrs old but only d size of an 18 month old… dis video is a gr8 idea, more people need to be aware of cdls!