Disease Information for Pallister Killian Mosaic Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Facies particular
Midfacial hypoplasia/flat face dysmorphism
Prominent forehead/High forehead
Wide Nasal Bridge
Congenital depigmented skin streaks/patches
Depigmented patches, skin
Scalp hair sparse/thin
White skin discoloration
Newborn posterior neck skin folds/edema
High arched palate
Hypotonia
Mental Deficiency Child
Snoring
Coarsened facial features
Dysmorphic appearance/face
Epicanthal folds
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Neonate-newborn
Associated Diseases & Rule outs
Rule Outs
Turner syndrome
Associated Disease & Complications
Hypertelorism/Wide Spaced Eyes
Mental retardation
Pallister Killian Mosaic Syndrome
Vitiligo
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Chromosome 12/isochromosome 12p mosaic
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Genetic mosaicism/possible (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Pallister Killian Mosaic Syndrome, Synonym/Chromosome 12, isochromosome 12p mosaic, Synonym/Killian syndrome, Synonym/Killian/Tescher-Nicola syndrome, Synonym/Pallister Mosaic syndrome, Synonym/Pallister Mosaic Syndrome tetrasomy 12p, Synonym/Teschler-Nicola/Killian Syndrome
Definition

Pallister Killian Mosaic Syndrome; Chromosome 12, Isochromosome 12p Mosaic; Killian Syndrome

Killian/Teschler-Nicola Syndrome; Pallister Mosaic Syndrome

Pallister Mosaic Syndrome; Tetrasomy 12p;

Teschler-Nicola/Killian Syndrome ; Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two; Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate; Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present; [NORD] ;chromosome 12p tetrasomy syndrome;

Summary:Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities; The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation; Pallister-Killian syndrome; [Jablonski anomalies database/NLM 2005] MCA/MR database 2002

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External Links Related to Pallister Killian Mosaic Syndrome
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Wikipedia
Merck
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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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