Congenital Brain Defects
What types of Congenital Brain Defects are there?
Congenital brain defects are a group of disorders of brain development that are present at birth. These defects can include:
Agenesis of the Corpus Callosum, Anencephaly (see our section on
Anencephaly), Dandy-Walker malformation, Encephalocele, Holoprosencephaly, Hydrocephalus (see our section on
Hydrocephalus), and other Cephalic Disorders (for more information please
see these sites:
Disorders - National Institute of Neurological Disorders and Stroke
Brain Anomalies - Merck & Co., Inc.
Agenesis of the Corpus Callosum (ACC) is a congenital birth defect in which the hemispheres of the brain do not develop
normally. The corpus callosum is the band of white matter that connects the left and right cerebral hemispheres of the brain and
facilitates communication between the hemispheres, in ACC it is partially or completely absent. In addition to agenesis of the corpus
callosum, other callosal disorders include hypogenesis (partial formation), dysgenesis (malformation) of the corpus callosum, and
hypoplasia (underdevelopment) of the corpus callosum.
For more information on Agenesis of the Corpus Callosum please visit:
NINDS - National Institute of Neurological Disorders and Stroke
The University of Maine - Education and Human Development: What is agenesis of the corpus callosum (ACC)?
Fetal Treatment Center - University of California, San Francisco: Agenesis of the Corpus Callosum.
Anencephaly - Please see our section on
Dandy-Walker malformation – is a brain defect involving incomplete formation of the cerebellum and fluid filled cysts. For more
information on Dandy Walker Syndrome please see:
NINDS, Dandy Walker Syndrome
- National Institute of Neurological Disorders and Stroke
WebMD, Children's Health - Dandy Walker Malformation
Patient.co.uk - Dandy-Walker Syndrome
NORD, Dandy Walker Malformation - National Organization for Rare Disorders
Encephalocele – is a rare neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it
through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development.
For more information on Encephalocele please see:
Information - National Institute of Neurological Disorders and Stroke
- Wikimedia Foundation, Inc.
- Centers for Disease Control and Prevention
Holoprosencephaly (HPE) - is a complex brain malformation resulting from incomplete separation of the prosencephalon (the
forebrain of the embryo) in early in gestation, where it fails to develop into two hemispheres. For more information on Holoprosencephaly
Orphanet Journal of Rare Diseases, Holoprosencephaly - BioMed Central Ltd.
- Wikimedia Foundation, Inc.
NCBI, Holoprosencephaly - National Center for Biotechnology Information
Hydrocephalus - Please see our section on Hydrocephalus