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Orofacial Birth Defect
Choanal atresia, cleft lip, cleft palate
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.
hematoma
A collection of blood within the brain or on its surface that can cause increased pressure, which can damage brain cells and interrupt blood flow.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. The condition is characterized by progressive difficulty with movement and speech
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
cerebellum
The portion of the brain mainly responsible for balance and coordination.
BDPM
Birth Defects Monitoring Program
Non-system-specific Birth Defect
Amniotic band sequence
Parkinson's disease
A progressive degeneration of nerve cells in the part of the brain that helps control muscle movement.
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.
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