Symptoms
Wolf-Hirschhorn syndrome causes malformations in most parts of the body
because the genetic error affects fetal growth and development. Symptoms
may include:
- Distinctive facial features - prominent forehead, wideset eyes, and broad beaked nose, collectively described as "Greek warrior helmet" features
- Brain and muscles - profound mental retardation, small head, seizures (50% of individuals), low muscle tone, poor muscle development
- Bones - very short stature, facial deformities, malformations of hands and feet, chest, and spine
- Heart defects
- Urinary and genitals - malformations or underdevelopment of organs
Diagnosis
Children born with Wolf-Hirschhorn syndrome may be diagnosed by ultrasound
in utero or by appearance at birth. The distinctive facial features are
an immediate clue to the presence of the syndrome. Genetic testing can
confirm the diagnosis.
Additional tests, such as x-rays to look for bone and internal malformations, renal ultrasonography to examine the kidneys, and magnetic resonance imaging of the brain, are important.
Treatment
Since no treatment exists for the underlying genetic disorder, treatment
for Wolf-Hirschhorn syndrome focuses on the symptoms present. For exampe,
seizure disorder would be treated with medication, and difficulty eating
or swallowing might require a gastrostomy feeding tube. Physical and
occupational therapy can help maintain muscle strength and joint mobility.
Care by many different specialists may be needed.
The risk of a parent having another child with Wolf-Hirschhorn syndrome is unlikely unless the parent is a carrier for the disorder.
Information for this article was taken from:
Chen, H. (2003). Wolf-Hirschhorn syndrome. eMedicine, accessed at
http://www.emedicine.com/ped/toppic2446.htm
