Disease Information for Pallister Killian Mosaic Syndrome

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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