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, intellectual disability, and abnormalities of several organ systems. It is a rare condition and the estimate of the syndrome being prevelant in 1 in 50,000 births is likely an underestimate due to cases not being diagnosed.

Wolf-Hirschhorn syndrome is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4. In most cases, this is not an inherited genetic disorder but rather a mutation that occurs spontaneously.

In fact, in 85 to 90 percent of people 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.

Symptoms 

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 intellectual disability
  • 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 88 to 99 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)

Diagnosis 

Indications of Wolf-Hirschhorn syndrome may be suggested 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 is necessary to 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).

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.

Treatment 

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 intellectual disability 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.

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Article Sources
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  1. National Organization for Rare Disorders. Wolf-Hirschorn syndrome. Updated 2017.

  2. U.S. National Library of Medicine, Genetics Home Reference. Wolf-Hirschhorn syndrome. Updated January 21, 2020.

  3. National Institutes of Health, Genetic and Rare Diseases Information Center. Wolf-Hirschorn syndrome. Updated April 28, 2017.

  4. Khaira N, Kulish M, Chhabra M, Khawar N. A case of partial anomalous pulmonary venous connection In Wolf-Hirschhorn syndromeChest. 2018;154(4). doi:10.1016/j.chest.2018.08.742

  5. Xing Y, Holder JL, Liu Y, et al. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018;298(2):289-295. doi:10.1007/s00404-018-4798-1

Additional Reading
  • 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.