About wolf hirschhorn syndrome
What is wolf hirschhorn syndrome?
Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder caused by a partial deletion (monosomy) of the short arm ("p") of chromosome 4. Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. Because the amount of genetic material deleted varies, the symptoms of this syndrome vary from case to case.
What are the symptoms for 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
What are the causes for wolf hirschhorn syndrome?
Doctors don’t really know what causes this spontaneous genetic change that occurs during a baby’s development. The “broken” chromosome usually isn’t inherited from either parent; the deletion typically occurs after fertilization. Doctors do think that three different genes can be deleted from chromosome 4, and all are important to early development.
What are the treatments for 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