Putting a Spotlight On
Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.
What is Wolf Hirschhorn Syndrome ?
It is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability , low muscle tone ( hypotonia ), and seizures .
What are the signs of Wolf Hirschhorn Syndrome?
Wolf-Hirschhorn affects many parts of the body, both physical and mental. The most common symptoms are abnormalities of the face, delayed development, intellectual disabilities, and seizures.
Other problems your baby could have include:
Bulging, wide-set eyes
Droopy eyelids and other eye problems
Cleft lip or palate
Downturned mouth
Low birth weight
Microcephaly, or an unusually small head
Underdeveloped muscles
Scoliosis
Heart and kidney problems
Failure to thrive
How is Wolf Hirschhorn Syndrome diagnosed?
Sometimes your doctor can find the physical signs of Wolf-Hirschhorn syndrome with routine ultrasounds during your first trimester of pregnancy. Or chromosome issues could show up in what’s known as an expanded cell-free DNA screening test. But these are both just screenings, not diagnostic tests. Your doctor will need to do more tests to know whether your baby has Wolf-Hirschhorn.
One test that can detect more than 95% of chromosome deletions in Wolf-Hirschhorn is called a “fluorescence in situ hybridization” (FISH) test. Tests done after your baby is born also can identify the partial deletion of the chromosome.
If your doctor confirms your child has Wolf-Hirschhorn, he may suggest several imaging tests to fully understand all affected areas of your baby’s body. You and your partner also should be tested if you plan to have more children in the future.
What services are available for individuals with Wolf Hirschhorn Syndrome?
There is no cure for Wolf-Hirschhorn syndrome, and every patient is unique, so treatment plans are tailored to manage the symptoms. Most plans will include:
Physical or occupational therapy
Surgery to repair defects
Support through social services
Genetic counseling
Special education
Controlling seizures
Drug therapy
Resources/References:
https://www.webmd.com/children/wolf-hirschorn-syndrome#2
https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/
https://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/
https://emedicine.medscape.com/article/950480-overview
