May
22
23:00
Genetic diseases

Lejeune syndrome

Syndrome Lejeune

Lejeune syndrome Lejeune syndrome is an inherited genetic disorder associated with a change in the structure of the fifth chromosome.The disease was named after the French scientist Jérôme Lejeune in 1963.This disease is characterized by an unusual child's cry, reminiscent of cat

The cause of the syndrome Lejeune 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

- The lag in the development of the child's physical and mental

- Low weight at birth

- Reduced muscle tone

- crescent-shaped structure of the face with wide-spaced eyes

- Congenital heart

- microcephaly (reduced size of the skulland the brain at the rate of other parts of the body)

- characterized by low location and deformation ears

- Speakers frontal mounds

- Increased tapered nose

- anomalies of the internal organs (blood vessels and kidneys)

- Brightexpressed difficulty breathing

- Inguinal hernia

- Small size of the lower jaw

- Strabismus, astigmatism

Lejeune syndrome Some signs are age features.Fade with time cat crying, muscular hypotonia, moon face, but microcephaly, oblique shape of the eyes become more pronounced features.There is a growing backlog and psychomotor development of the child.Noisy breathing quickens wheezing and aggravated respiratory diseases

Lejeune syndrome

Diagnosis Diagnosis is based on clinical signs and issued a "cry of a kitten."A laboratory tests confirm the presence of the syndrome in the loss of chromosome region 5

Treatment Treatment is aimed at eliminating syndrome accompanied by symptoms.In the first months of life the child should be protected from infectious diseases .There should be continuous monitoring by a pediatrician and neuropsychiatrist.Doctors recommend a means to stimulate the psychomotor development of children, gymnastics and massage therapy

Prevention

Timely delivery of genetic counseling in families where there were children with the syndrome Lejeune and research to determine the karyotype parents.

service physician recruitment is relevant only for the citizens of the Russian Federation

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