Wolf-Hirschhorn syndrome


Type of disease: Rare conditions

Wolf-Hirschhorn syndrome is a genetic condition that causes unique facial features, delays in development, and learning issues (intellectual disability). The facial features include a high forehead, broad nasal bridge, wide-set eyes, abnormally shaped ears, and a small head (microcephaly). Doctors familiar with this condition say the face looks like a “Greek Warrior Helmet.” Other symptoms include low muscle tone (hypotonia), an opening in the roof of the mouth (cleft palate) or lip (cleft lip), height that is shorter than the rest of the family (short stature), skin problems, heart issues, and seizures. As a person ages, the seizures usually go away. The learning issues can be mild or severe and usually affect a person’s ability to communicate.

Wolf-Hirschhorn syndrome is caused by a loss (deletion) of genetic material (DNA) from the short arm of chromosome number four. The deletion is usually written as 4p-, as the short arm is referred to as the “p arm.” Since genetic instructions (genes) are located on chromosomes, the deletion causes a person to have many missing genes. The genes that are missing in the deletion that causes Wolf-Hirschhorn syndrome are important for early development. These missing genes are the cause of this condition. In the majority of cases, the deletion is new (de novo). However, in rare cases, an affected person inherits the deletion from an affected parent.

Wolf-Hirschhorn syndrome is usually considered in a child who has the unique facial features of the condition. These features are usually recognized by a doctor familiar with genetic conditions (geneticist). A test to look at the chromosomes is used to confirm the diagnosis. Treatment options include therapy to help with development and communication. If your child has been diagnosed with Wolf-Hirschhorn syndrome, talk with their doctor about all current treatment options. Support groups can provide additional information.

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