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Angelman Syndrome
Condition Overview: Angelman Syndrome is a rare disorder characterized by developmental delay; absence or near absence of speech; unprovoked, prolonged episodes (paroxysms) of inappropriate laughter; characteristic facial abnormalities; and episodes of uncontrolled electrical activity in the brain (seizures). Abnormalities of the head and facial (craniofacial) area may include a small head (microcephaly); deeply set eyes; a large, wide mouth (macrostomia) and a protruding tongue; an underdeveloped upper jaw (maxillary hypoplasia) and protruding lower jaw (mandibular prognathism); and widely spaced teeth. During infancy, feeding difficulties and abnormal sleep patterns are typically present. In addition, by early childhood, individuals with Angelman Syndrome have severe developmental delays; impaired control of voluntary movements (ataxia), resulting in a stiff manner of walking (ataxic gait) with jerky arm movements; and characteristic positioning of the arms with flexion of the elbows and wrists. Although affected individuals may be unable to speak, many gradually learn to communicate through other means, such as sign language. In addition, some may have enough receptive language development to understand simple commands.In most affected individuals, Angelman Syndrome appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported. The disorder is caused by deletion or disruption of a certain gene or genes located on the long arm (q) of chromosome 15 (15q11-q13). . |
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