Disease Information for Happy puppet syndrome/Angelman syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Mouth open/characteristic facies
Sunken Cheek Bones
Blond hair patient
Hypoplasia Narrow Maxilla
Large mouth/macrostomia
Large/protruding jaw/prognathism
Prolapsing tongue
Ataxia
Autistic Features Secondary
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Infant Seizures
Jerky movements
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Mental/motor retardation in children/signs
Myoclonus/Myoclonic jerks on exam
Protrusion of tongue/involuntary
Puppet like limb ataxia
Seizures
Seizures/Children/recurrent
Slow Motor Development
Truncal hypotonia
Laughter/inappropriate
Psychomotor retardation
Delayed speech development/impediment
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Established Disease Population
Patient/Blue Eye Color
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Cytogenetics Abnormal
Chromosomal abnormality (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
FISH (Fluorescent in situ hybridization) DNA test/abnormal (Lab)
Genomic Microarray/CGH
Associated Diseases & Rule outs
Associated Disease & Complications
Convulsions (grand mal)
Happy puppet syndrome
Mental retardation
Microcephaly/oligophrenia
Mutism
Neurodevelopmental disorders
Seizure disorder (epilepsy)
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Chromosome 15q 11-13 [650 bands]
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus Chromosome 15
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq28
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Loss 11-13 segment/chromosome 15/long arm/maternal
Pathophysiology/CTSA (Cathepsin A) Gene Mutation
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Angelman syndrome, Angelman syndrome (AS), Angelman syndrome (disorder), Angelman's syndrome, AS, Children Puppet, Happy puppet syndrome, HAPPY PUPPET SYNDROME FORMERLY, Puppet Children, puppetlike syndrome, Syndrome Angelman, Syndrome Happy Puppet, Synonym/Angelman's syndrome
Definition

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]

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External Links Related to Happy puppet syndrome/Angelman syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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