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Crouzon syndrome
Many of the signs of Crouzon syndrome result from the early fusion of the skull bones during childhood. Abnormal growth of these bones leads to wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.
Spina bifida
Is a condition that often has disabling consequences. With severe spina bifida, a person’s legs and feet are paralyzed, and there are problems with bowel and bladder control. Learning disabilities are common, and mental retardation sometimes occurs
endorphins
Naturally occurring molecules made up of amino acids. Endorphins attach to special receptors in the brain and spinal cord to inhibit pain signals.
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.
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
CBDMP
California Birth Defects Monitoring Program
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
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.
Alzheimer's disease
Severe form of dementia caused by significant deterioration of brain tissue.
NBDPN
National Birth Defects Prevention Network
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