Abstract

Angel man syndrome is an important genetic syndrome characterized by severe motor and
intellectual retardation, microcephaly (abnormally small head), ataxia, frequent jerky limb movements and
flapping of the arms and hands, hypotonia (floppiness), hyperactivity, seizures, absence of speech, frequent
smiling and outbursts of laughter, and an unusual facies (facial appearance) characterized by macrostomia
(large mouth), a large jaw and open-mouthed expression, and a great propensity for protruding the tongue
(tongue thrusting). It is a genetic disorder. It’s usually caused by problems with a gene located on chromosome
15 called the ubiquitin protein ligase E3A (UBE3A) gene. Genetics tests can reveal the chromosome defects
in angelman syndrome.

Key words: Angelman syndrome