What is Wolf-Hirschhorn Syndrome?

Wolf-Hirschhorn syndrome is a condition characterized by an altered facial appearance, growth delays, and disabilities that are intellectual in nature. Seizures are also common in a person with this condition. Wolf-Hirschhorn syndrome is rare, though scientists believe more people may be affected by it but remain undiagnosed. Most of the cases of Wolf-Hirschhorn syndrome are not inherited. Instead, the majority of cases develop because of chromosome deletion that happens randomly in the early stages of pregnancy or even when eggs and sperm cells are being formed.

The most obvious signs of Wolf-Hirschhorn syndrome involve the patient’s face. In most cases, a person with this condition has a high forehead and the bridge of his nose appears flat. Typically, the eyes of a person with this condition are spaced farther apart than usual, and in some cases, they may appear to protrude. Often, patients with Wolf-Hirschhorn syndrome also have less space between their noses and upper lips than others, their mouths may appear to turn downward, and their chins may be smaller than normal. In many cases, there are also defects in the way their ears are formed, and their heads may appear much smaller than normal; their facial features are sometimes asymmetrical as well.

Growth and development problems also mark Wolf-Hirschhorn syndrome. In many cases, a person with this condition will grow poorly, even before he is born. After birth, he may gain weight slowly and have difficulty eating enough. The muscle tone of a person with this condition is usually weak, and his muscles may not be as developed as normal.

Intellectually, a person with Wolf-Hirschhorn syndrome may be different as well. Often, a person with this condition has weaknesses in verbal and language abilities but may function on a higher level than those with other intellectual disabilities. The level of intellectual disability may differ from patient to patient, however, and in some people, it may be mild.

Seizures often affect children with this condition. Unfortunately, the condition may not always respond well to typical treatments for seizures. The seizures do, however, tend to become less frequent or even disappear as a child grows older.

The development of Wolf-Hirschhorn syndrome is usually due to chromosome deletion and typically happens at random. There is no cure for it, and doctors focus on treating its symptoms instead. For example, doctors may prescribe anti-seizure medications and recommend therapy to encourage the development of a patient’s muscles.