What is holoprosencephaly?
Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases, 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.
How can I or my loved one help improve care for people with holoprosencephaly?
Consider participating in a clinical trial so clinicians and scientists can learn more about holoprosencephaly and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with holoprosencephaly at Clinicaltrials.gov.
Where can I find more information about holoprosencephaly?
Information may be available from the following resources:
Genetic and Rare Diseases (GARD) Information Center
March of Dimes
National Human Genome Research Institute
National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish
The Arc of the United States
Phone: 202-534-3700 or 800-433-5255
The Carter Centers for Brain Research in Holoprosencephaly and Related Brain Malformations