Wolf-Hirschhorn Syndrome Symptoms and Diagnosis

a young girl with characteristic features of Wolf-Hirschhorn syndrome

Ross J. Lenox/Wikimedia CC By-SA 4.0

Wolf-Hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. It results in distinctive facial features, short stature, mental retardation, and abnormalities of several organ systems. It is a rare condition and is estimated to occur in one in every 50,000 births.

Wolf-Hirschhorn syndrome results from a specific error on a part of the gene known as chromosome 4p. In most cases, this is not an inherited genetic disorder but rather a mutation that occurs spontaneously.

In fact, in 87 percent of people bother with Wolf-Hirschhorn syndrome, there is no family history of the disorder. While Wolf-Hirschhorn syndrome can occur in people of any race or ethnicity, twice as many females are affected as males.


Wolf-Hirschhorn syndrome causes malformations in most parts of the body because the genetic error occurs during fetal development.

One of the more characteristic symptoms is what is described as "Greek warrior helmet" facial features. These collectively include a prominent forehead, wide-set eyes, and a broad-beaked nose. Other symptoms may include:

  • Profound mental retardation
  • Small head
  • Cleft palate
  • Very short stature
  • Malformation of the hands, feet, chest, and spine
  • Low muscle tone and poor muscle development
  • Creases across the palms called "simian creases"
  • Underdevelopment or malformation of genitals and urinary tract
  • Seizures (occurring in around 50 percent of affected individuals)
  • Serious heart defects, especially atrial septal defect (commonly known as a "hole in the heart"), ventricular septal defect (a malformation of the connection between the lower chambers of the heart), and pulmonic stenosis (obstruction of flow from the heart to the pulmonary artery)


Wolf-Hirschhorn syndrome may be diagnosed by ultrasound while the baby is still in the womb or by appearance after delivery. The distinctive facial features are typically the first clue that the child has the disorder. Genetic testing can confirm the diagnosis.

If Wolf-Hirschhorn is suspected during pregnancy, genetic testing can also be performed as well as a more sophisticated test called fluorescent in situ hybridization (FISH) which has a 95 percent accuracy in confirming the disorder.

Additional tests, such as X-rays to investigate bone and internal malformations, renal ultrasonography to examine the kidneys, and magnetic resonance imaging (MRI) of the brain can help identify the range of symptoms the baby may face.


Since no treatment exists to remedy the birth defect once it has occurred, treatment of Wolf-Hirschhorn syndrome focuses on addressing the various symptoms. This may include medications to treat seizures, physical and occupational therapy to maintain muscle and joint mobility, and surgery to repair organ abnormalities.

While there is no way to minimize the challenges a family can face when confronted with Wolf-Hirschhorn syndrome, it's also important to remember that there is no set course for the disorder. Some children born with Wolf-Hirschhorn may have few, if any, major organ problems and live well into adulthood.

The severity of mental impairment can also vary significantly. As such, the average life expectancy for a child with Wolf-Hirschhorn is unknown simply because the severity and symptoms of the disorder are so varied.

To better cope with the challenges of raising a child with Wolf-Hirschhorn syndrome, it's important to reach out to advocacy groups that are able to provide the professional referrals, patient-centered information, and the emotional support you need. These include the Chromosome Disorder Outreach group in Boca Raton, Florida and the 4P Support Group in Sunbury, Ohio.

Was this page helpful?

Article Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial policy to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  • Battaglia, A.; Carey, J.; South, S.; and Wright, T. (2015) "Wolf-Hirschhorn Syndrome." GeneReviews. Pagon, R.; Adam, M.; Ardinger, h. et al. (eds). Seattle, Washington: University of Washington, Seattle.