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Today's Terms
Pantothenate kinase-associated neurodegeneration
Definition:
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
Beare-Stevenson cutis gyrata syndrome
Definition:
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.
Musculoskeletal Birth Defect
Definition:
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.
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