Wolf-Hirschhorn Syndrome: Information and Causes

Our Wolf-Hirschhorn Syndrome Center has the care and counseling you need that will meet your standards and goals. Wolf-Hirschhorn syndrome, easily abbreviated ass WHS, is a condition that affects many parts of the body.

It is a chromosome disorder that is due to a missing chunk of the short (p) arm of chromosome 4. For that reason, it is called the 4p- Syndrome. The size of the deletion is different  within people with WHS, and research tells us that larger deletions tend to result in more severe features.

The major features of this disorder include a characteristic facial appearance and delayed growth and development. Major features also include intellectual disabilities, seizures, and low muscle tone.

Most cases of WHS are not inherited, but some cases are inherited from a parent who does not have WHS. More information regarding WHS is found here.

Achievement Center of Texas Wolf-Hirschhorn Syndrome Center
Via Wikimedia Commons

Symptoms and Characteristics of Wolf-Hirschhorn Syndrome

Treatment of WHS depends on the symptoms. The symptoms vary from person to person. Almost every person with WHS has distinctive facial features, including a high forehead and broad, spaced eyes. Additionally, they may have a flat nasal bridge.

Other facial characteristics include a down-turned mouth and a small chin. Similarly, people could have poorly formed ears with small holes or flaps of skin. An affected individual’s face may be asymmetrical, and they may have an unusually small head. More symptoms are as follows:

  • Delayed growth and development
  • Weak and underdeveloped muscles
  • Delayed motor skills (sitting, standing, walking)
  • Children and adults with short stature
  • Mild to severe intellectual disabilities
  • Seizures that disappear with age
  • Mottled or dry skin
  • Scoliosis and kyphosis (hunchback)
  • Missing teeth
  • Opening in the roof of mouth
  • Cleft lip
  • Abnormalities of the eyes, heart, brain, and genitourinary tract (urinary tract and the reproductive system)

**More information on symptoms is found here.

How ACT Helps Those with Wolf-Hirschhorn Syndrome

The underlying disorder has no specific treatment. However, a list of care and counseling services offered for WHS is below.

  • Gavage feeding and/or gastrostomy (indicated for feeding difficulties)
  • Seizure control - Sodium bromide is a helpful drug for many patients with WHS.
  • Multidisciplinary team approach, including speech and communication therapy and sign language
  • Standard care for skeletal anomalies, ophthalmologic abnormalities, congenital heart defects, and hearing loss
  • Genetic counseling

The long-term outlook for people with Wolf-Hirschhorn syndrome (WHS) depends on the specific symptoms present and the severity of those symptoms. The average life expectancy is unknown, but people have gone on to live healthy long lives, despite having WHS.

Muscle weakness may increase the risk of having chest infections and ultimately may reduce the life expectancy. However, many people, when severe heart defects, chest infections, and uncontrollable seizures are not present, survive and go into adulthood.