Genome.gov | Learning About Holoprosencephaly

Learning About Holoprosencephaly (HPE)

What do we know about holoprosencephaly?
Is there a test for holoprosencephaly?
Is there a treatment for holoprosencephaly?
What is the prognosis for holoprosencephaly
NHGRI Clinical Research on Holoprosencephaly
Additional Resources for Holoprosencephaly

What do we know about holoprosencephaly?

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. Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose and upper lip.

This birth defect occurs soon after conception. It has a prevelance of 1 in 250 during early embryo development, and 1 in 10,000 to 1 in 20,000 at term.

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