A genetic disorder characterized by intellectual and developmental delay, seizures, jerky movements, ataxia, hyperactivity, skin and eye hypopigmentation, and unprovoked laughter. The syndrome is caused by a deletion of a segment of chromosome 15.
Angelman syndrome, formerly known as happy puppet syndrome due to a resemblance of children with the disorder to the movement and appearance of a marionette, is a rare congenital neurodevelopmental disorder with complex genetic etiology. It is manifested by mental retardation, speech impairment, movement disorder, and easily- provoked laughter. Dysmorphic facial features frequently occur. The condition was first reported by the English pediatrician, Harry Angelman. The condition is usually not recognized at birth or in infancy due to nonspecific features. Average age of diagnosis is 6 years.
A rare genetic condition marked by severe mental retardation, microcephaly, and paroxysms of laughter. It is due to an abnormal chromosome 15 of maternal origin.