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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.
Ear Birth Defect
Anotia/microtia
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.
brain
The part of the central nervous system inside the skull. Its functions include muscle control and coordination, sensory reception and integration, speech production, memory storage and the elaboration of thought and emotion.
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
CBDMP
California Birth Defects Monitoring Program
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.
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.
Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
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