What is wolfhauser syndrome?

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a deletion of the short arm of chromosome 4. It happens in about 1 out of 50,000 babies born in the United States.

Children with WHS have multiple health issues, including:

- Typical facial features, such as widely spaced eyes (hypertelorism), epicanthal folds, a broad nasal bridge, a Greek helmet appearance to the skull (brachycephaly), a short, upturned nose, a thin upper lip, and deep grooves in the skin along the sides of the mouth

- Intellectual disability, ranging from severe to profound

- Growth delays before and after birth (prenatal and postnatal growth restriction)

- Seizures

- Feeding difficulties

- Low muscle tone (hypotonia)

- Heart defects, such as aortic coarctation and atrial septal defect

- Kidney abnormalities

- Vision problems, such as nystagmus (rapid, involuntary eye movements) and strabismus (crossed eyes)

- Hearing problems

The severity of the symptoms of Wolf-Hirschhorn syndrome can vary from person to person. Some people may have only mild symptoms, while others may have severe symptoms that require lifelong medical care.

There is no specific treatment for Wolf-Hirschhorn syndrome. Treatment focuses on managing the symptoms of the condition. This may include:

- Special education and therapy to help with intellectual disability and developmental delays

- Medication to control seizures

- Surgery to correct heart defects or other medical problems

- Assistive devices, such as wheelchairs and walkers, to help with mobility

- Support from family and caregivers

Wolf-Hirschhorn syndrome is a complex condition that can have a significant impact on a person's life. However, with early intervention and support, many people with WHS can live full and meaningful lives.