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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.
Orofacial Birth Defect
Choanal atresia, cleft lip, cleft palate
NBDPN
National Birth Defects Prevention Network
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.
Cardiovascular Birth Defect
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
Muenke syndrome
The primary feature of this disease is prematurely fused skull bones along the coronal suture, the growth line which goes over the head from ear to ear. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones.
CBDRP
Centers for Birth Defects Research & Prevention
endorphins
Naturally occurring molecules made up of amino acids. Endorphins attach to special receptors in the brain and spinal cord to inhibit pain signals.
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