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Wolf-Hirschhorn syndrome is a very rare genetic disease, the first case of which was described in detail only in the 60s. The disease is already diagnosed in newborns. Why does Wolf-Hirschhorn syndrome appear? We check its diagnosis and treatment.
Wolf-Hirschhorn syndrome – disease characteristics
Wolf-Hirschhorn syndrome is defined as a compilation of birth defects that can be inherited from parents, but more often than not in the family. Affects the distal part of chromosome 4. Newborns with Wolf-Hirschhorn syndrome are born once in 50 births. Although the genetic disease is not directly related to the sex chromosomes, the syndrome affects girls more often than boys. The mortality rate for Wolf-Hirschhorn syndrome is very high. Usually, children are under two years of age.
Wolf-Hirschhorn syndrome – causes
The main cause of Wolf-Hirschhorn syndrome is the lack of the distal part of the chromosome 4 pair, which is responsible for the occurrence of birth defects. The loss of DNA occurs during the formation of an individual set of genes (genotype). In this genetic disease, the size of the defect does not matter, as even with a small lesion, Wolf-Hirschhorn syndrome will develop.
Wolf-Hirschhorn syndrome – symptoms
Wolf-Hirschhorn syndrome can involve virtually all systems (urinary, respiratory, nervous and cardiovascular). Facial dysmorphia is also very characteristic. Its main features include:
- wide-set eyes (ocular hypertelorism);
- diagonal wrinkle;
- cleft palate and tongue;
- shortening of the upper lip (fish mouth);
- shifted hairline;
- hooked nose;
- low set ears;
- large auricles;
- convergent strabismus;
- small lower jaw (hypoplasia).
In addition, a small mass after birth, microcephaly, as well as hypotonia, i.e. lowering muscle tone, are noticeable.
Also check: Kabuki syndrome – a rare genetic disease
Wolf-Hirschhorn syndrome – diagnosis
A newborn with suspicion of Wolf-Hirschhorn syndrome should be examined by several specialists, including ENT specialist, neurologist, cardiologist and ophthalmologist. In addition, in order to detect the disease, genetic tests are used to confirm or exclude changes that have occurred in chromosome 4. Already at the stage of pregnancy, you can check whether the baby will have Wolf-Hirschhorn syndrome. All you need is an ultrasound or amniotic fluid sample.
Wolf-Hirschhorn syndrome – treatment
The treatment of Wolf-Hirschhorn syndrome is very complicated. It mainly focuses on rehabilitation as the disease itself is incurable. Systematic exercises that require sacrifice on the part of the parents can lead the child to live to adulthood, as some cases confirm. A child with Wolf-Hirschhorn syndrome requires constant care. He can rarely move independently and perform mundane activities. In addition, patients are sent to psychological therapy to ensure their emotional development.
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