Lejeune's syndrome
Lesen syndrome is an inherited genetic disease associated with a change in the structure of the 5th chromosome. The disease was named after the French scientist Jerome Lejeune in 1963.This disease is characterized by an unusual child's cry, resembling cat
cause of Lejeune syndrome is the lack of a fragment of the 5th chromosome
Symptoms
- Crying baby, resembling a cat meowing
- Change in the structure of the larynx or hypoplasia
- lag in a child's physical and mental development
- Low weight at birth
- Reduced muscle tone
- crescent-shaped structure of the face with wide-spaced eyes
- Congenital heart
- Miccephaliy ( reduced skull sizes and brain at a rate of other body parts)
- characteristic low position and auricles deformation
- projecting frontal protuberances
- Increased tapered nose
- Abnormalities of internal organs( vascular and kidney)
- Pronounced difficultybreathing
- Inguinal hernia
- Small size mandible
- Strabismus, astigmatism
Separate Lejeune syndrome symptoms are age-related features. Disappears with time cat's weeping, muscle hypotension, moonlike face, but microcephaly, oblique incision of the eyes acquire more pronounced features. The backwardness is also increasing in the psychomotor development of the child. Quickens the noisy breathing, and wheezing exacerbated respiratory diseases
Diagnosis Diagnosis is based on clinical signs and publishes "cry kitten".And laboratory tests confirm the presence of a syndrome with loss of the chromosome 5
Treatment
Treatment of the syndrome is aimed at eliminating the accompanying symptoms. In the first months of life, you should take care of your child from infectious diseases .It is necessary to constantly monitor the pediatrician and psychoneurologist. Doctors recommend a means to stimulate the psychomotor development of children, gymnastics and massage therapy
Prevention
Timely medical genetic counseling in families where there are children with the syndrome Lejeune and research to determine the karyotype of the parents.
