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Wolf Hirschhorn Syndrome Treatment, disease, Symptoms, prognosis

Syndrome types

MAIN SYMPTOMS: Abnormal lung development, Long distance between eyes, Cleft palate, Lower limbs hypotrophy, Placental hypotrophy, Deformation of the ears, Delayed psychomotor development, Growth delay in a child, Cleft lip, Strabismus, Mental retardation, No speech, Bone pathologies, Spinal pathologies, Flat face, Cardiac pathology, Reduced fetal movement, Difficulty walking, Impairment of hearing, Wide nose

Wolf Hirschhorn Syndrome Treatment, disease, Symptoms, prognosis: Wolf – Hirshhorn syndrome is a hereditary disease caused by deletion of the short arm of chromosome 4p16. With such a deviation, there is a loss of part of the genetic material, which leads to irreversible effects in the body, namely: mental and physical retardation, physiological abnormalities, convulsive seizures, disturbances in the heart.


  • Etiology
  • Classification
  • Symptomatology
  • Diagnostics
  • Treatment
  • Possible complications
  • Prevention
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The frequency of diagnosis of the syndrome of Wolf – Hirshhorn is one case per 100 thousand newborns, is observed regardless of the gender of the child. Syndrome is diagnosed during genetic studies during fetal development or after the birth of a baby. This genetic failure is not treated, but supportive therapy is applied. When defects in the development of internal organs are detected, the treatment is surgical in nature.

The prognosis is unfavorable: the majority of children die in the first years of life, the survivors have large deviations in mental and physical development, various anomalies associated with appearance.


Wolff-Hirschhorn syndrome is a rare chromosomal disorder that develops with the rearrangement of the short arm of the fourth chromosome. Most cases of this disease are associated with a spontaneous genetic change at the very beginning of the embryo formation in the womb.

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Causes of mutational changes in the gene may be associated with external or internal factors.

External factors include:

  • poor environmental conditions radiation emissions
  • chemical emissions
  • genetically modified food
  • abuse of poor-quality food with a chemical component;
  • bad habits.

Internal factors are:

  • infectious diseases during pregnancy;
  • violation of the karyotype of chromosomes;
  • genetic predisposition

All of the above reasons are conditionally possible, but it is not possible to confirm their 100% involvement in anomalies with chromosomes.


Wolf-Hirschhorn syndrome is classified according to the degree of symptomatology, which directly depends on the deletion of the chromosomal region.

Deletions are chromosomal rearrangements in which there is a loss of a portion of the chromosome, that is, the karyotype is disturbed, which leads to rupture of a portion of chromosomes with subsequent improper rearrangement.

There are several types of adjustment:

  • interstitial, when there are no internal chromosomes, but their end (telomere) is not affected;
  • terminal, when the telomeric region and its neighbor is absent.

According to the phenotype, genetic pathology can take three forms:

  • small deletion – insignificant deviations are observed, not accompanied by serious defects;
  • large deletion – this group is more common and is associated with the restructuring of large areas, the clinical manifestations are well pronounced;
  • very large deletion – restructuring affects very large areas of chromosomes, it is the most unfavorable type of anomalous process.

The main criteria for diagnosis are the degree of deletion and the severity of physiological disorders.


Wolf-Hirschhorn Girl Wolff-Hirshhorn syndrome is found in a child before or after birth, and the symptoms appear immediately and worsen over time.

During gestational period, there are delays in intrauterine development, the fetus’s motor activity is reduced, and placental hypotrophy is observed .

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Children after birth have the following symptoms:

  • the child lags behind in psychomotor development;
  • difficulty walking;
  • convulsive syndrome present ;
  • there is no speech, but there are guttural sounds;
  • the child is stunted;
  • mental development suffers, the skull can either increase or decrease;
  • hypotrophy of the lower extremities.
  • The pathological process may affect the anatomical structure, namely:
  • increases the distance between the eyes;
  • nose expands, it becomes like a beak;
  • the face becomes oblate, in the form of a Greek helmet;
  • there is a squint ;
  • congenital eye disease;
  • cleft lip or cleft palate ;
  • deformed ears, hearing loss ;
  • the presence of heart disease, abnormal development of the lungs;
  • not all internal organs are normally developed;
  • pathology of the spine and bones.

The pathological process is irreversible, and all the above-mentioned symptoms in the severe stage of the illness lead to the death of the patient in the first years of life.

When abnormalities in the prenatal development of the embryo are detected, the woman is advised to terminate the pregnancy, since there is no specific treatment, and the changes in the genome are irreversible.


If Wolf-Hirshhorn syndrome is suspected, laboratory tests are prescribed:

  • cytogenetic study;
  • total blood count.

Visual diagnostics include:

  • X-ray – with its help, slow development of tissues and bone marrow, reduction of the lower jaw, pathological development of the extremities are detected;
  • ultrasound of the heart, kidneys, lungs, and genitals;
  • magnetic resonance imaging of the head – abnormal development of the cerebellum and ventricles can be diagnosed.

Additionally, the patient is referred for consultation to an ophthalmologist, a neurologist, and genetics. After confirmation of the diagnosis, maintenance therapy is prescribed.

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Mild-type Wolff-Hirshhorn syndrome has a favorable prognosis, but there is no treatment as such, and the prognosis is negative for severe stages of the disease. Change the rearrangement of chromosomes is not yet possible, and this is the main cause of the disease. In this case, the therapy is supportive:

when feeding is difficult, the child installs a gastric tube;
prescribe anticonvulsants;
if defects in the development of internal organs are detected, surgical interventions are prescribed.

Immunodeficiency is found in such children , which reduces their resistance to diseases, therefore they are prescribed immunostimulants and vitamin-mineral complexes.


Wolf-Hirschhorn syndrome, depending on the size of the chromosome restructuring site, can cause:

  • mental retardation;
  • delays in physical development;
  • congenital heart defects;
  • heart failure;
  • congenital astigmatism and strabismus;
  • anatomical defects.

A large percentage of children with such a diagnosis are born dead or die within two years. There is no treatment for the disease; it is only possible to prevent a worsening of the condition by using supportive therapy.


Preventive measures include: consultation with a geneticist and conducting genetic research aimed at identifying possible anomalies in the genes of mother and father, preventing infectious diseases in the first months of pregnancy.

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