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Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
neural tube defect
A structure in early fetal life that develops into the brain, spinal cord, spinal nerves and spine.
Canavan disease
Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the eukodystrophies.
CBDRP
Centers for Birth Defects Research & Prevention
NBDPN
National Birth Defects Prevention Network
hematoma
A collection of blood within the brain or on its surface that can cause increased pressure, which can damage brain cells and interrupt blood flow.
SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
Cardiovascular Birth Defect
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
hippocampus
Part of the brain that assists in storing memory by sorting and sending new bits of information to be stored in appropriate sections of your brain and recalling them when necessary.
Jackson-Weiss syndrome
Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features.
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