Wolf-Hirschhorn syndrome is a group of birth defects that consists of a complex group of conditions. Due to their specific nature, this rare genetic disease is usually diagnosed in the first week of a child's life. What are the causes and symptoms of Wolf-Hirschhorn syndrome? What is the treatment of this condition? What is the role of rehabilitation in treating patients?

Wolf-Hirschhorn syndrome(Wolf-Hirschhorn syndrome, WHS) is abirth defect syndrome , first described in the 1960s last century. WHS isa rare genetic diseasebecause there are 1: 50,000 births (US data) and is more often diagnosed in girls.

Typically 1/3 of patients die before the age of 2 due to complications from the disease associated with Congenital Defect Syndrome (mainly myocardial defects and aspiration pneumonia).

Wolf-Hirschhorn syndrome: causes

The disease is caused by a microdeletion of a fragment of one of the chromosome 4 pair, i.e. the loss of a section of DNA. One of the pairs of chromosome 4 is missing a fragment of the short arm that causes birth defects. Some of the components of the genetic material are lost at the stage of genotype formation (individual set of genes). The size of the defect does not affect the severity of disease symptoms, because every, even the smallest, microdeletion leads to the appearance of the disease.

Wolf-Hirschhorn syndrome - symptoms

Symptoms of Wolf-Hirschhorn syndromeon the basis of which a preliminary diagnosis can be made are:

  • low birth weight
  • hypotension (decrease in muscle tone)
  • microcephaly (unnaturally small skull size)
  • intellectual disability

The facial dysmorphism resembles a Greek helmet (i.e. the forehead is high and prominent) and the abnormally small lower jaw is also characteristic. Also noticeable are wide-set eyes (so-called ocular hypertelorism), drooping eyelids, wide pockmarked nose, low-set ears, large auricles. In some cases, a cleft lip and palate may also be visible.

Defects may also indicate genetic abnormalitiesthe structure of external and internal genitalia (in boys, e.g. hypospadias, in girls, e.g. underdevelopment of the vagina, uterus), as well as defects of the heart, skeletal system, digestive system, pattern. The patient's immune system is weakened.

It should be noted that these defects do not have to occur simultaneously.

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Wolf-Hirschhorn syndrome: diagnosis

Due to the fact thatWolf-Hirschhorn syndromeconsists of a complex group of diseases, the patient should be examined by doctors of several speci alties, including: neurologist, cardiologist, ophthalmologist and ENT specialist.

In order to make a final diagnosis, genetic testing is necessary (including cytogenetic testing, i.e. chromosome testing, and in situ fluorescence hybridization).

The diagnosis can be made not only after the baby is born, but also in the early stages of fetal development. For this purpose, prenatal tests should be performed, such as non-invasive ultrasound and amniocentesis (taking a small sample of amniotic fluid), chorionic villus sampling or percutaneous cord blood collection (these are invasive tests and therefore carry a risk of complications).

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Wolf-Hirschhorn syndrome: treatment

Wolf-Hirschhorn syndrome is incurable. Only treatment is used, which consists in relieving the symptoms of the disease, i.e. mainly rehabilitation. Systematic exercise is an important element of treatment because, according to research, some patients may live to adulthood thanks to it.

Category:

Genetic diseases