Wolf–Hirschhorn Syndrome: Causes, Symptoms, Treatment, Prognosis
What is Wolf–Hirschhorn Syndrome?
Wolf-Hirschhorn Syndrome is an extremely rare genetic condition caused by partial or in some cases complete deletion of the short arm of chromosome 4. This deletion of the chromosome results in the baby having distinct facial features with wide set eyes, a small head which is a condition called microcephaly, a beaked nose, ear deformity along with severe developmental delays, cardiac defects, and seizures.
Since the deletion of the chromosome can be variable ranging from partial to near complete to complete deletion hence the symptoms caused by Wolf-Hirschhorn Syndrome are highly variable and differ from patient to patient. The treatment for Wolf-Hirschhorn Syndrome is supportive and symptomatic with treating the symptoms as they arise. Surgical correction of the deformities can be done when the child grows to a suitable age when surgery can be done. Other than this there is no definitive treatment for Wolf-Hirschhorn Syndrome.
What Causes Wolf–Hirschhorn Syndrome?
As stated, Wolf-Hirschhorn Syndrome is caused due to partial or complete deletion of the chromosome 4 which results in the distinct facial features representing Wolf-Hirschhorn Syndrome. There is no definite cause found for the deletion of the chromosome 4 causing Wolf-Hirschhorn Syndrome. In majority of the cases of Wolf-Hirschhorn Syndrome, this deletion occurs spontaneously during embryonic development meaning that the child gets affected by Wolf-Hirschhorn Syndrome before he or she is born. In some cases, Wolf-Hirschhorn Syndrome occurs due to balanced translocation in one of the parents.
A balanced translocation occurs when two or more chromosome break away from their parent positions and exchange places with the other breakaway group which results in an altered but balanced set of chromosomes. This alteration of the chromosomes does not affect the carrier but definitely affects the carrier's offspring who has a high risk of developing something like Wolf-Hirschhorn Syndrome.
What are the Symptoms of Wolf–Hirschhorn Syndrome?
As stated above, babies born with Wolf-Hirschhorn Syndrome have distinct facial features with wide set eyes, extremely small head, and a beaked nose. There are significant development delays and the child finds it very difficult to reach his or her developmental milestones on time. There may also be significant growth retardation. Failure to thrive is another classic symptom of Wolf-Hirschhorn Syndrome along with hypotonicity, psychomotor retardation, and seizures.
Babies with Wolf-Hirschhorn Syndrome also tend to have cleft lip, cleft palate, a short upper lip, and fishmouth appearance. Children with Wolf-Hirschhorn Syndrome tend to also have flexed soles such that they walk on their toes. Along with this, there may be certain cardiac and renal defects as well associated with Wolf-Hirschhorn Syndrome.
How is Wolf–Hirschhorn Syndrome Diagnosed?
The diagnosis of Wolf-Hirschhorn Syndrome is quite easy as the baby is born with distinct facial features. To confirm the diagnosis, a genetic testing may be done to find out whether there is a deletion of chromosome 4. If there is a family history of this disorder then a prenatal test may also be done through ultrasound to see if the unborn child has Wolf-Hirschhorn Syndrome or not.
How is Wolf–Hirschhorn Syndrome Treated?
There is no definitive treatment for Wolf-Hirschhorn Syndrome and treatment is usually supportive and symptomatic. Seizures arising due to Wolf-Hirschhorn Syndrome may be dealt with anticonvulsant medications. The visible deformities can be corrected by surgery but this is done when the child is a bit old so that he is strong enough to go through surgery. Speech therapy is also important so as to make the child somewhat independent and able to communicate and pass his or her thoughts to others. The treatment involves multidisciplinary approach from various specialists so as to get best possible results for the child suffering from Wolf-Hirschhorn Syndrome.
What is the Prognosis of Wolf–Hirschhorn Syndrome?
Wolf-Hirschhorn Syndrome may not have a treatment but the children suffering from it live until adult life albeit they will be significantly dependent on others for their everyday tasks. Speech and occupational therapy may be of benefit in teaching such patients on how to become independent and cope up with Wolf-Hirschhorn Syndrome.