happy puppet syndrome

hap·py pup·pet syn·drome

[MIM*234400]

a syndrome characterized by mental retardation, ataxia, hypotonia, epileptic seizures, easily provoked and prolonged spasms of laughter, prognathism, and an open-mouthed expression.

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Angelman syndrome

A rare autosomal recessive form of infantile epilepsy (OMIM:234400) characterised by seizures, profound mental retardation, microcephaly (occasionally), unilateral cerebral atrophy, flattened occiput, large mandible, protruding jaw and tongue, a smiling open-mouthed facial expression, paroxysms of inappropriate laughter, gait ataxia, and spastic “bouncing” movements of the extremities (likened to those of a marionette).

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Angelman,

Harry, 20th century English physician.

Angelman syndrome - recessive gene causing motor dysfunction, mental retardation, hypotonia. Synonym(s): happy puppet syndrome

Medical Eponyms © Farlex 2012