What is Wolf-Hirschhorn Syndrome?

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Wolf-Hirschhorn Syndrome was first described in 1961 by Herbert L. Cooper and Kurt Hirschhorn. It is a very rare genetic abnormality that is caused by an abnormality in chromosome 4. When a portion the short arm of this chromosome is missing, the child is born with this affliction.

Wolf-Hirschholrn Syndrome occurs once in approximately every 50,000 births. Females are more likely to be born with it than males, and it has been noted in all ethnic groups.

Symptoms of Wolf-Hirschhorn Syndrome

A child born with Wolf-Hirschhorn Syndrome will have a smaller-than-normal head, a cleft lip or cleft palate, a small chin, and a short upper lip. The mouth is downturned, and is said to be “fish-like.” In addition, the child will exhibit poor muscle tone and is prone to seizures. Mental retardation is another symptom of Wolf-Hirschhorn Syndrome, and may be severe.

Other abnormalities that are present with Wolf-Hirschhorn Syndrome include scoliosis, hearing difficulties, fused teeth, and a low hairline. The eyes are set very far apart, and the person may have a broad nose. The neck may be webbed, and the child may have kidney problems.

Some children born with Wolf-Hirschhorn Syndrome are able to learn to walk, and some are able to do so with assistance. Their development will be slow, and some of them can learn to control their bowel functions during the day.

Diagnosing Wolf-Hirschhorn Syndrome

It is possible for doctors to diagnose the disease via ultrasound while the baby is in utero. A diagnosis can also be made after delivery by observation. If Wolf-Hirschhorn Syndrome is suspected, a panel of genetics tests would be ordered to confirm the diagnosis.

Treatment of Wolf-Hirschhorn Syndrome

No specific treatment exists for the Syndrome once it has been diagnosed. Instead, the symptoms associated with it are treated. Anti-seizure medication may be given as appropriate. Physiotherapy or occupational therapy may be offered to help the child develop his or her muscles. Parents of children with Wolf-Hirschhorn Syndrome may find support groups a good source of information and referrals to available resources.

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