Disease Information for Happy puppet syndrome/Angelman syndrome

Congenital syndrome with deletion of 15q or 15q11-13 from the MATERNAL 15 chromosome; characteristic phenotype occurs [note prader willi syndrome is 15q deletion off the PATERNAL 15 chromosome]; developmental delay,absence of speech,frequent unprovoked laughing spells, jerky movements,truncal hypotonia, and microcephaly---------------------------Angelman Syndrome

AS; Happy Puppet Syndrome (obsolete);

Discussion: 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)[NORD 2005]

(Edit)