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Weaver syndrome (also called Weaver-Smith syndrome) is a rare congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation, and distinctive craniofacial, skeletal, and neurological abnormalities.〔CRAWFORD, MARK W., and DENISE ROHAN. "The Upper Airway In Weaver Syndrome." Pediatric Anesthesia 15.10 (2005): 893-896. Health Source: Nursing/Academic Edition.〕 It was first described by Dr. David Weaver in 1974. It is similar to Sotos syndrome. ==Signs and symptoms== Children with Weaver syndrome tend to look similar and have distinctive physical and craniofacial characteristics, which may include several, but not all of the following features: *Macrocephaly *Large bifrontal diameter *Flattened occiput *Long philtrum *Retrognathia *Round face in infancy *Prominent chin crease *Large ears *Strabismus *Hypertelorism *Epicanthal folds *Downslanting palpebral fissures Other features may include loose skin, thin deep-set nails, thin hair, short ribs, limited elbow and knee extension, camptodactyly, and a coarse, low-pitched voice. Delayed development of motor skills such as sitting, standing, and walking are commonly exhibited in early childhood. Patients with Weaver syndrome typically have mild intellectual disability with poor coordination and balance. They also have some neurological abnormalities such as speech delay, seizures, mental retardation, hypotonia or hypertonia, and behavioral problems. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Weaver syndrome」の詳細全文を読む スポンサード リンク
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