Brain Injury Terms and Definitions

CBDRP
Centers for Birth Defects Research & Prevention

Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome is a genetic disorder characterized by the remature joining of certain bones of the skull (craniosynostosis) and a skin disorder called acanthosis nigricans.

Orofacial Birth Defect
Choanal atresia, cleft lip, cleft palate

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.

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.

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.

Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia

Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)

NBDPN
National Birth Defects Prevention Network