This conference is supported by the NIH Office of Rare Diseases
and the Carter Centers for Brain Research in Holoprosencephaly
and Related Malformations
Holoprosencephaly (HPE) is a relatively common birth defect of the brain, which often can also affect facial features, including closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as well as other birth defects.
Not all individuals with HPE are affected to the same degree, even in families where more than one individual has this predisposition. This is why it is often helpful to discuss these issues with a genetic professional, who is trained to recognize features that might suggest that HPE is, or is not, likely to occur again in a family. The risk of reoccurrence is small in most families. The best diagnostic procedure is a brain scan (CT or MRI). There are a number of causes of HPE, including genetic alterations and environmental effects. The cause of HPE in any individual family is often unknown.
The researchers at the National Institutes of Health [nih.gov], and our colleagues in many universities worldwide, are trying to understand the causes of HPE so that we can provide better counseling to families with the genetic forms of HPE and to understand ways that might prevent this condition for future families.
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Last Reviewed: September 2006