Pallister's Mosaicism Syndrome (www.whonamedit.com) Pallister's mosaicism syndrome A multiple anomaly/mental retardation syndrome. Also known as Killians syndrome KillianPallister syndrome teschler-nicola syndrome Pallister's syndrome Teschler-Nicola and Killian syndrome. Teschler-Nicola's syndrome. Teschler-Nicola and Killian syndrome http://www.whonamedit.com/synd.cfm/1868.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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.
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. 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. The Arc (a national organization on mental retardation)
NORD - National Organization For Rare Disorders, Inc. 12p Mosaic. 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
Pallister Killian Mosaic Syndrome subdivision(s) covered by this report. Synonyms Chromosome 12, Isochromosome12p Mosaic; Killian Syndrome; Killian/teschlernicola syndrome; http://my.webmd.com/hw/raising_a_family/nord512.asp
Extractions: 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.
Index Disease Kikuchi s Disease Kikuchi s Histiocytic Necrotizing Lymphadenitis KikuchiFujimotoDisease Killian Syndrome Killian/teschler-nicola syndrome Kinky Hair http://my.webmd.com/hw/index/index-topics-K.asp
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
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
Extractions: Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair, 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, 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 Topics - Quest Diagnostics Patient Health Library KikuchiFujimoto Disease. Killian Syndrome. Killian/teschler-nicola syndrome.Kinky Hair Disease. Kinsbourne Syndrome. KL. Kleine Levin Syndrome. http://www.questdiagnostics.com/kbase/list/ht/k.htm
Extractions: A B C D ... KW KA Kabuki Make-up Syndrome Kahler Disease Kallmann Syndrome Kanner's autism ... Kawasaki Disease KB KBG Syndrome KC KC KD KD KE Kearns Sayre Syndrome (KSS) Kearns-Sayre Disease Kennedy Disease Kennedy Type Spinal and Bulbar Muscular Atrophy ... Ketotic Glycinemia KF KFS KI KID Syndrome Kidney Agenesis kidney failure Kidney Failure, Acute ... Kinsbourne Syndrome KL Kleine Levin Syndrome Kleine-Levin Hibernation Syndrome Klinefelter's Syndrome Klippel Trenaunay Syndrome ... Kluver Bucy Syndrome KM KMS KN Knee Problems and Injuries Knee replacement surgery Kneecap Instability Kneecap Tracking Disorder ... Top KO Kobner's Disease Kohler Disease Kohler's Disease (of the Tarsal Navicular) Kohler's Osteochondrosis of the Tarsal Navicular ... Korsakoff's Syndrome KR Krabbe's Disease Kramer Syndrome KS KSS KT KTS KTW Syndrome KU Kufs Disease Kugelberg Welander Syndrome KW KWS
T Temporal Lobectomy Behavior Syndrome. Tendonitis. teschlernicola syndrome. Testicular Cancer Temporal Lobectomy Behavior Syndrome. Tendonitis. teschler-nicola syndrome. Testicular Cancer http://www.slider.com/Health/Conditions_and_Diseases/T.htm
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).
Index - A To Z Âå¾Ç¹Ï®ÑÀ] - °ê»Ú«p¥Í°·±d¶é°Ï - 24Drs.com Histiocytic Necrotizing Lymphadenitis nord KikuchiFujimoto Disease nord KillianSyndrome nord Killian/teschler-nicola syndrome nord Kinky Hair Disease http://www.24drs.com/Health_Guide/health.asp?who=4115.21642
Extractions: testicular cancer Directory Home: Health: Conditions and Diseases: Cancer : Genitourinary: Testicular (25) Support Groups@ (1) Orchid Cancer Appeal - A UK charity devoted to research and treatment in men's cancers. Promoting Awareness of Prostate and Testicular Cancer Contains other useful information. Virginia Urology Center: Testicular Cancer - Concise and general information regarding testicular cancer . Provides a colored sketch of the anatomy. Urology Channel: Testicular Cancer Testicular cancer is a relatively rare but treatable form of cancer . Although it accounts for only 1 percent of cancers in men, it is the most common cancer in young men. Testicular Cancer Organizations rank: Directory Home: Health: Conditions and Diseases: Cancer : Organizations (140) Breast Cancer @ (62) See Also: Health: Child Health: Conditions and Diseases: Cancer Health: Support Groups: Conditions and Diseases: Cancer American Cancer Society - Dedicated to helping persons who face cancer . Supports research, patient services, early detection, treatment and education. Canadian
The New Health Directory Tendonitis@ (9); teschlernicola syndrome@ (3); Testicular Cancer@ (25);Thalasemmia@ (21); Thoracic Outlet Syndrome@ (6); Thromboangiitis http://www.thenewhealthfind.com/Health/ConditionsandDiseases/T/
Healthcyclopedia Index - T TAR Syndrome, TaySachs Disease. Temporal Lobectomy Behavior Syndrome, Tendonitis.teschler-nicola syndrome, Testicular Cancer. Thalasemmia, Thoracic Outlet Syndrome. http://www.healthcyclopedia.com/t.html