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         Teschler-nicola Syndrome:     more detail

1. Chromosome 12 Isochromosome 12p Mosaic,Killian Syndrome,Killian/Teschler-Nicola
Mosaic Aneuploidy Pallister Mosaic Syndrome Chromosome 12, Isochromosome 12p MosaicKillian Syndrome Killian/teschlernicola syndrome Pallister Mosaic Syndrome
http://www.icomm.ca/geneinfo/pallkill.htm
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,Pallister Mosaic Aneuploidy,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,Pallister Mosaic Aneuploidy
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DISORDERS GLOSSARY Pallister-Killian
(as defined by the
National Organization for Rare Disorders

also known as:
Pallister-Killian Mosaic Syndrome
Pallister Mosaic Aneuploidy
Pallister Mosaic Syndrome Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Tetrasomy 12p Teschler-Nicola/Killian Syndrome (as defined by the National Organization for Rare Disorders
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason.

2. 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

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Pallister's mosaicism syndrome Also known as:
Killian’s syndrome
Killian-Pallister syndrome Teschler-Nicola syndrome Pallister's syndrome Pallister's tetrasomy syndrome Pallister-Killian syndrome Pallister-Teschler-Nicola and Killian syndrome Teschler-Nicola's syndrome Teschler-Nicola and Killian syndrome Teschler-Nicola and Killian-Pallister syndrome Synonyms: Chromosome 12p tetrasomy syndrome, chromosome 12 mosaic tetrasomy, mosaic tetrasomy 12p, tetrasomy 12. Associated persons: Wolfgang Killian Philip David Pallister M. Teschler-Nicola Description: 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.

3. Pallister Killian Mosaic Syndrome - Quest Diagnostics Patient Health Library
12p Mosaic. Killian Syndrome. Killian/teschlernicola syndrome. Pallister Mosaic Syndrome. Pallister Mosaic Syndrome Tetrasomy 12p. Teschler-Nicola/Killian Syndrome
http://www.questdiagnostics.com/kbase/nord/nord512.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord512"; var hwDocTitle="Pallister Killian Mosaic Syndrome"; var hwRank="1"; var hwSectionHWID="nord512"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Pallister Killian Mosaic Syndrome
Important
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.
Synonyms
  • Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p Teschler-Nicola/Killian Syndrome
Disorder Subdivisions
  • None
General Discussion
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.
Resources
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910

4. 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

5. Definitions Of Genetic Disorders-K
kid.htm Kidney Agenesis Kidneys CysticRetinal Aplasia Joubert Syndrome joubert.htmKillian Syndrome pallkill.htm Killian/teschler-nicola syndrome pallkill.htm
http://www.icomm.ca/geneinfo/def-k.htm
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DISORDERS GLOSSARY
Definitions of Genetic Disorders beginning with the letter K Click on the link next to the disorder to view its definition. Kabuki Make-Up Syndrome kabuki.htm
Kahler Disease multmyo.htm
Kallmann Syndrome kallmann.htm
Kanner Syndrome aut.htm
Kanzaki Disease schindler.htm
Kaposi Disease (not Kaposi Sarcoma) xp.htm
Kappa Light Chain Deficiency agamprim.htm Karsch-Neugebauer Syndrome ectodact.htm Karsch-Neugebauer Syndrome splithand.htm Kartagener Syndrome-Chronic Sinobronchial Disease and Dextrocardia kartagener.htm Kartagener Triad kartagener.htm Kasabach-Merritt Syndrome htc.htm Kast Syndrome maffuci.htm Kawasaki Disease kawasaki.htm Kawasaki Syndrome kawasaki.htm KBG Syndrome kbg.htm

6. 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
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Health Topics Symptoms ... For a Complete Report Pallister Killian Mosaic Syndrome Important It is possible that the main title of the report Pallister Killian Mosaic Syndrome 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. Synonyms
  • Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p Teschler-Nicola/Killian Syndrome
Disorder Subdivisions
  • None
General Discussion 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. Resources The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910

7. 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
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You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... KW KA Kabuki Make-up Syndrome Kahler Disease Kallmann Syndrome Kanner's autism ... back to top KB KBG Syndrome back to top KC KC back to top KD KD back to top KE Kearns Sayre Syndrome (KSS) Kearns-Sayre Disease Kennedy Disease Kennedy Type Spinal and Bulbar Muscular Atrophy ... back to top KF KFS back to top KI KID Syndrome Kidney Agenesis kidney failure Kidney Failure, Acute ... back to top KL Kleine Levin Syndrome Kleine-Levin Hibernation Syndrome Klinefelter's Syndrome Klippel Trenaunay Syndrome ... back to top KM KMS back to top KN Kneecap Instability Kneecap Tracking Disorder Kniest Dysplasia Kniest Syndrome ... back to top KO Kobner's Disease Kohler Disease Kohler's Disease (of the Tarsal Navicular) Kohler's Osteochondrosis of the Tarsal Navicular ... back to top KR Krabbe's Disease Kramer Syndrome back to top KS KSS back to top KT KTS KTW Syndrome back to top KU Kufs Disease Kugelberg Welander Syndrome back to top KW KWS back to top Search the Help Last updated: May 07, 2004

8. 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

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Whonamedit.com does not give medical advice.
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.
A
B C D ... Z Eponyms beginning with T: Taenzer's stain Taenzer's syndrome Taenzer-Unna stain Takayasu's arteritis ...
Ole Daniel Enersen

9. RARE DISEASES
12p Mosaicism. Killian Syndrome. Killian/teschlernicola syndrome. Pallister Mosaic Syndrome. Pallister Mosaic Syndrome Tetrasomy 12p. Teschler-Nicola/Killian Syndrome
http://www.kovaidoctors.com/diseases/p/p4.php
Pallister-Killian Mosaic Syndrome Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason.
OTHER NAMES
Chromosome 12, Isochromosome 12p Mosaicism
Killian Syndrome
Killian/Teschler-Nicola Syndrome
Pallister Mosaic Syndrome
Pallister Mosaic Syndrome Tetrasomy 12p
Teschler-Nicola/Killian Syndrome please click on the following Symptoms
Related disorders

Therapies and Medicines

Best consulting doctors
(view their profiles also) Products and news Books on this disorder For Resources We help doctors and viewers in obtaining resources and references from various bodies around the globe. P lease click here and send the mailer Symptoms
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).

10. 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
var hwPrint=0; Health Topics Click a letter to see a list of topics beginning with that letter.
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
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Health Topics Medical Tests Medications Support Groups This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information. For more information, click here How this information was developed

11. T
Temporal Lobectomy Behavior Syndrome. Tendonitis. teschlernicola syndrome. Testicular Cancer Temporal Lobectomy Behavior Syndrome. Tendonitis. teschler-nicola syndrome. Testicular Cancer
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    12. 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
    Pallister-Killian Syndrome
    DESCRIPTION
    Pallister-Killian Syndrome can also be found with the following
    Synonyms:
    • Chromosome 12, Isochromosome 12p Mosaic
    • Killian Syndrome
    • Killian/Teschler-Nicola Syndrome
    • Pallister Mosaic Syndrome
    • Pallister Mosaic Syndrome Tetrasomy 12p
    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).

    13. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/T
    Behavior Syndrome@ (4); Tendonitis@ (9); teschlernicola syndrome@ (3);Testicular Cancer@ (20); Thalasemmia@ (21). Thoracic Outlet Syndrome
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    14. Genetic Conditions / Rare Conditions Information Site
    hyperoxaluria; PallisterHall syndrome; Pallister-Killian syndrome(tetrasomy 12p, teschler-nicola syndrome); Periodic paralysis;
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    15. 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

    16. Tendonitis At Product-Magazine
    2) Tapeworms@ (22) TAR Syndrome@ (4) TaySachs Disease@ (4) Temporal Lobectomy BehaviorSyndrome@ (4) Tendonitis@ (9) teschler-nicola syndrome@ (3) Testicular
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    18. Testicular Cancer
    Behavior Syndrome@ (3) Tendonitis@ (9) teschlernicola syndrome@ (3) TesticularCancer@ (25) Thalasemmia@ (21) Thoracic Outlet Syndrome@ (6) Thromboangiitis
    http://www.thenewhealthfind.com/health/testicular cancer
    testicular cancer
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    TAR Syndrome, TaySachs Disease. Temporal Lobectomy Behavior Syndrome, Tendonitis.teschler-nicola syndrome, Testicular Cancer. Thalasemmia, Thoracic Outlet Syndrome.
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