Cornelia de Lange Syndrome – Causes and Symptoms of Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a developmental disorder that affects most of the parts of the body. This condition is characterized by typical facial features like slow growth that can be immediately after birth or before birth, mental retardation with impairment in the hands and legs, excessive hair and heart defects.The features can very among the affected individuals. It is estimated that one in 100.000 newborns get affected with this syndrome.

The causes of Cornelia de Lange syndrome include:

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

Many of the symptoms are present at birth. They include:

  • Cleft palate
  • Increased risk of respiratory infections
  • Heart abnormalities
  • Genitourinary malformations
  • Abnormal speech development
  • Hearing loss
  • Webbed toes
  • Small feet and hands
  • Excessive hair growth
  • Malformed ears
  • Low-set ears
  • Long central upper groove
  • Down-turned lips
  • Thin lips
  • Long curly eyelashes
  • Mono brow
  • Arched eyebrows
  • Thick eyebrows
  • Upturned nose
  • Broad nose
  • Small nose
  • Wide head
  • Short and small head
  • Mental retardation
  • Psycho-motor retardation
  • Hand and leg malformations
  • Facial abnormalities
  • Delayed physical development before and after birth
  • Small widely spaced teeth
  • Feeding problems
  • Seizures
  • In curved fifth finger
  • Gastro-esophageal reflux
  • Low birth weight
  • Repetitive motions
  • Self stimulation
  • Rigidity of behavior
  • Violence
  • Aggressiveness
  • Interpersonal connectiveness

How is this Syndrome diagnosed
Children with this syndrome are often found shorter than the rest of the family and there are no medical tests to verify the presence of this disorder and is usually diagnosed by a genetics specialist.

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