|
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.
brain plasticity
Theories based on the idea that the brain may have the ability to use surviving brain cells in a different way to make up for those brain cells that are damaged.
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.
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.
aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.
Guillain-Barre (ge-YAH buh-RA) syndrome
An inflammatory disorder in which the body's immune system attacks the nerves outside the brain and spinal cord (peripheral nerves) and, more rarely, parts of the brain itself.
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.
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
Orofacial Birth Defect
Choanal atresia, cleft lip, cleft palate
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
|
Did You Know?