Pallister's Mosaicism Syndrome (www.whonamedit.com) Also known as Killians syndrome KillianPallister syndrome teschler-nicola syndromePallister's syndrome Pallister's tetrasomy syndrome Pallister-Killian http://www.whonamedit.com/synd.cfm/1868.html
Extractions: Tetrasomy of the short arm of chromosome 12. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. 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. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
PALLISTER-KILLIAN MOSAIC SYNDROME A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigat Category Health Conditions and Diseases 1. Background. also called Killian/teschlernicola syndrome, Pallister MosaicSyndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome; http://www.icondata.com/health/pedbase/files/PALLISTE.HTM
Www.whonamedit.com TeschlerNicola and Killian syndrome. Teschler-Nicola and Killian-Pallistersyndrome. teschler-nicola syndrome. Teschler-Nicola's syndrome. http://www.whonamedit.com/azeponyms.cfm/T.html
Pallister-Killian Mosaic Syndrome - Description PATHOGENESIS Also called Killian/teschlernicola syndrome, Pallister Mosaic Syndrome,Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome the http://www.pk-syndrome.org/pks_desc_e.htm
Extractions: DESCRIPTION Pallister-Killian Syndrome can also be found with the following According to the NORD (National Organization for Rare Disorders) Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. 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. SYMPTOMS: Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair at birth, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures at birth, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays).
Health Library - Pallister Killian Mosaic Syndrome subdivision(s) covered by this report. Synonyms. Chromosome 12, Isochromosome12p Mosaic; Killian Syndrome; Killian/teschlernicola syndrome; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
NORD - National Organization For Rare Disorders, Inc. Killian Syndrome; Killian/teschlernicola syndrome; Pallister Mosaic Syndrome;Pallister Mosaic Syndrome Tetrasomy 12p; Teschler-Nicola/Killian Syndrome. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister Kil
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WebMD - Histiocytic Necrotizing Lymphadenitis nord KikuchiFujimoto Disease nord KillianSyndrome nord Killian/teschler-nicola syndrome nord Kinky Hair Disease http://my.webmd.com/content/healthwise/72/17908.htm
Genetic Conditions / Rare Conditions Information Site hyperoxaluria; PallisterHall syndrome; Pallister-Killian syndrome(tetrasomy 12p, teschler-nicola syndrome); Periodic paralysis; http://www.kumc.edu/gec/support/groups.html
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DINO - Language: Englisch - Health - Conditions And Diseases - T Translate this page Behavior Syndrome Dieser Link verweist auf eine Haupt-Kategorie Tendonitis DieserLink verweist auf eine Haupt-Kategorie teschler-nicola syndrome Dieser Link http://www.dino-online.de/dino_page_ccd2ac9c38cee5ede0486f9a8643f3ae.html
