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Apert syndrome
Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet.
Beare-Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.
NCEH
National Center for Environmental Health
NBDPN
National Birth Defects Prevention Network
Alexander disease
Alexander disease is considered one of the leukodystrophies, a group of disorders where the primary abnormality is the inability to maintain the fatty covering (myelin) that insulates nerve fibers in the brain. Alexander disease is a rare disorder of the nervous system that usually begins during infancy or early childhood.
Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation
amyotrophic lateral sclerosis (ALS)
Also known as Lou Gehrig's disease, ALS causes degeneration of the nerve cells in certain regions of the brain and spinal cord that control the muscles.
cerebellum
The portion of the brain mainly responsible for balance and coordination.
Cardiovascular Birth Defect
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
amygdala
uh-MIG-duh-luh). A part of the brain that oversees emotions and triggers your response to danger.
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