|
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.
BDPM
Birth Defects Monitoring Program
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
Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.
Non-system-specific Birth Defect
Amniotic band sequence
cerebellum
The portion of the brain mainly responsible for balance and coordination.
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
Parkinson's disease
A progressive degeneration of nerve cells in the part of the brain that helps control muscle movement.
endorphins
Naturally occurring molecules made up of amino acids. Endorphins attach to special receptors in the brain and spinal cord to inhibit pain signals.
|
Did You Know?