1. Pallister-Hall Syndrome View the Full Record. Syndrome. pallisterhall syndrome. Synonyms. Hall syndrome 2 http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome521.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Pallister-Hall syndrome Synonyms Hall syndrome 2 congenital hypothalamic hamartoblastoma hamartopolydactyly syndrome hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma-hyperphalangeal hypoendocrine-hypoplastic anus (4H) syndrome hypothalamic hamartoblastoma-hypopituitarism-imperforate anus-postaxial polydactyly syndrome microphallus-imperforate anus-syndactyly-hamartoblastoma-abnormal lung lobulation-polydactyly (MISHAP) syndrome renal-anal-lung-polydactyly-hamartoblastoma (RALPH) syndrome Summary A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases. Major Features Head and neck: Short midface and micrognathia. The skull may be asymmetric with large fontanels. Ears: Low set and posteriorly angulated ears. Nose: Flat nose with a flat bridge and anteverted nostrils. Mouth and oral structures: Microglossia, buccal frenula, palatal anomalies, and cleft larynx. Gingival cysts and hypoplastic mandibular ridge may be associated.

2. Pallister-Hall Syndrome [PHS]: A Layman's Guide/Index pallisterhall syndrome PHS A Layman's Guide has been retitled and reformattedand has moved to a permanent domain location. You are about to be redirected. http://www.geocities.com/ghelon/pallister-hall.html

Pallister-Hall Syndrome [PHS]: A Layman's Guide has been retitled and reformatted and has moved to a permanent domain location. You are about to be redirected. If redirection fails URL is http://www.pallisterhall.com

3. Pallister-Hall Foundation (Aust.) Welcome Page For PHS patients, their care givers, and medical practitioners. http://www.pallisterhall.com/

Pallister-Hall Foundation (Aust.) DONATIONS AND GIFTS OVER AUD$2.00 ARE NOW TAX DEDUCTIBLE MENU Patient Guide Dictionaries Reference Catalogue Image Library ... Help The Pallister-Hall Foundation (Aust.) is a non-profitable charitable Organisation dedicated to the care, health, well-being, welfare, support, encouragement and education of the public, Pallister-Hall Syndrome [PHS] patients, their families, carers and medical providers through the provision of information, materials and resources, and to the furtherance of research into PHS worldwide. Being Endorsed by the Australian Taxation Office [ATO] as a Deductible Gift Recipient [DGR] means that in most circumstances voluntary Donations and Gifts of money or property over AUD$2.00 are tax-deductible. Membership of the Pallister-Hall Foundation (Aust.) is open to all persons diagnosed with PHS, including individuals, families, carers and other interested persons including professionals and organisations. Adults, as well as children are welcome to apply for PHS Patient Financial Assistance Grants Search this Site Who's Who at the Pallister-Hall ... Foundation (Aust.)

4. Pallister-Hall Syndrome pallisterhall syndrome. Pallister-Hall Foundation. RFD Box 3000, Fairground Rd http://www.kumc.edu/gec/support/palshall.html

Pallister-Hall syndrome Pallister-Hall Foundation RFD Box 3000, Fairground Rd Bradford, VT 05033 Phone: (802) 222-9683 Contact: Debra Messer Also See: National organizations with information on genetic conditions or birth defects - variety of resources The National Organization for Rare Disorders Pallister Hall Syndrome information To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

5. 1886 Pallister Hall Syndromeearly Diagnosis And Natural History.Program Nr 1886 Features Listed For PALLISTERHALL (ANO-CEREBRO-DIGITAL) SYNDROME Absent fingers or oligodactyly Absent or hypoplastic tongue Agenesis/hypoplasia of corpus callosum Atrial septum defect Cerebellar abnormalities (structural) http://www.faseb.org/genetics/ashg99/f1886.htm

6. UCSF - Neuroradiology Case Of The Month Kang S, et al. GLI3 frameshift mutations cause autosomal dominant pallisterhall syndrome. Nat Genet 1997;15266-268 http://www.neurorad.ucsf.edu/previouscases/03062000.html

December 1999 Interesting Case Case History: Images: Click on image to view full size image. Diagnosis: Agressive fibromatosis of the right neck. Sagittal T1, axial FSE T2, axial T1, and T1 axial and coronal fat saturation post gadolinium sequences demonstrate an infiltrative mass posterior to the sternocleidomastoid muscle in the right neck. The mass is isointense to skeletal muscle on T1 pre-gad images, is intermediate on FSE T2 images and demonstrates marked contrast enhancement. PALLISTER-HALL SYNDROME SUMMARY 1980 — Hall et al described syndrome consisting of hypothalamic "hamartoblastoma", hypopituitarism, imperforate anus, polydactyly, and various visceral anomalies ETIOLOGY CLINICAL Primary feature is the hypothalamic hamartoma Other major manifestations: Polydactyly Dysplastic nails Craniofacial anomalies - bifid epiglottis, cleft palate, cleft uvula, cleft larynx Imperforate anus Congenital heart defects PATHOLOGY Initial histologic exam in neonates showed primitive germ cells indicating a neoplastic potential - hypothalamic "hamartoblastoma" RADIOLOGY Isointense to gray matter on T1 Iso- to hyperintense on T2 Noncalcified, nonenhancing

7. An Expert Speaks Out About HH One is from a genetic mutation on chromosome 7 leading to a genetic syndrome,pallisterhall syndrome which consist of extra fingers, toes and others. http://www.geocities.com/hhugs2001/liow.htm

Information about HH An Expert Speaks Out About HH What is a Hypothalamic Hamartoma? The Role of the Hypothalamus An informative tutorial about the vital role of the hypothalamus in maintaining the body's status quo The Endocrine System Learn more about the importance of the endocrine system, hormones and the hypothalamus MRI Scans of "The Real Deal" Actual MRI film of HH Medical Articles See a full description of Seizure Types Back to HHUGS Home Page Dr Kore Liow, formerly of the National Institutes of Health, and now Medical Director of the Comprehensive Epilepsy Center at Via Christi Health System, Wichita, Kansas, writes: HH is only one of a few pathology that can cause gelastic seizures. Others being temporal lobe seizure, infantile spasm, angelmann's syndrome, hypothalamic gliomas, tumors of the third ventricles and so on. The development of HH appear to have at least 2 different mechanisms. One is from a genetic mutation on chromosome 7 leading to a genetic syndrome, Pallister-Hall syndrome which consist of extra fingers, toes and others. The children of these patients will have a 50% chance of inheriting the syndrome. The mechanism for HH development in the sporadic group is still unclear but we are screening them with genetic blood tests. Do they have a common pathway? Is there any environmental/toxic factors that need to be considered? These are questions that will be investigated in my study.

8. Syndrome DB - Table Of Contents syndrome palataldigital-oral syndrome Pallister mosaic aneuploidy Pallister mosaicsyndrome Pallister syndrome 1 pallister-hall syndrome Pallister-Killian http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_p.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z P Pagon syndrome Paine syndrome palatal-digital-oral syndrome Pallister mosaic aneuploidy ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

9. Pallister-Hall Syndrome [PHS]: A Patient's Reference Guide/Disclaimer Notice The content of this Site has been compiled as a public service for the benefitof pallisterhall syndrome PHS patients, their families, carers, treating http://www.pallisterhall.com/disclaimer.html

COME ON - JOIN THE PALLISTER-HALL FOUNDATION (AUST.) TODAY! The content of this Site has been compiled as a public service for the benefit of Pallister-Hall Syndrome [PHS] patients, their families, carers, treating specialists, medical practitioners, and other interested persons in the hope that Pallister-Hall Syndrome [PHS], its peculiarities, effects and diagnostic features can be more widely recognized, known about and understood; the primary objective being to alleviate the fears, the stress, the frustration and the hopelessness that is often experienced by those desperately searching for information in their pursuit of knowledge. That information contained here has been researched, compiled and is based on independent information, materials and resources supplied by third parties; it is provided for awareness, educational, reference and research purposes only and is provided in good faith. In the compilation of the content for this Site, the Author/Compiler relied on the accuracy of that information, materials and resources available and deemed current at the time of writing. As technological, scientific, medical, diagnostic and treatment techniques and methods are changing and advancing at a rapid pace, that information contained in this Website can be updated, or can be out-of-date at any time.

10. 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

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals · National and International Organizations · Categories Genetic Counselors and Geneticists Children and Teen Sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

11. Pallister-Hall Syndrome And Related Phenotypes - Office Of Rare Diseases .......National Human Genome Research Institute (NHGRI) and the Office of Rare Diseasespallisterhall syndrome and Related Phenotypes. Workshop http://rarediseases.info.nih.gov/news-reports/workshops/pallister960301.html

National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Pallister-Hall Syndrome and Related Phenotypes Workshop Description Pallister-Hall Syndrome and Related Phenotypes, Bethesda, Maryland, March 1, 1996, sponsored by the National Human Genome Research Institute (NHGRI) and co-sponsored by the NIH Office of Rare Diseases (ORD). Workshop Summary For additional information on this workshop, please contact Dr. Les Biesecker, NHGRI, 301-402-2041.

12. 1591 Mutational Spectrum Of Pallister-Hall Syndrome. Program Nr 1591 Mutational Spectrum of pallisterhall syndrome. LGBiesecker 1 , JM Graham 2 , T. Grebe 3 , G. Neri 4 , R. Pagon http://www.faseb.org/genetics/ashg99/f1591.htm

13. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Phenotype and Etiology of pallisterhall syndrome. GLI3 frameshift mutations causeautosomal dominant pallister-hall syndrome. Nat Genet. 1997 Mar;15(3)266-8. http://www.clinicaltrials.gov/ct/gui/show/NCT00001404?order=27

14. GeneReviews: Pallister-Hall Syndrome Your browser does not support HTML frames so you must view pallisterhall syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/phs

Your browser does not support HTML frames so you must view Pallister-Hall Syndrome in a slightly less readable form. Please follow this link to do so.

15. GeneClinics: Diseases And Overviews PLOSL PLPRelated Disorders PROP1 - Related Combined Pituitary Hormone DeficiencyPTEN Hamartoma Tumor Syndrome pallister-hall syndrome Pantothenate Kinase http://www.geneclinics.org/profiles/

Funded by NIH, HRSA, and DOE Index of Review Titles The following is a list of titles of reviews in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ... Contact Us Children's Health System and University of Washington, Seattle Funding Support National Institutes of Health Health Resources and Services Administration US Department of Energy Technical Support University of Washington Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

16. Pallister-Hall Syndrome : Meddie Health Search ITEMS LINKS National Library of Medicine pallisterhall syndrome,its synonyms, a summary and a list of major features. (Rating http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Pa

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Pallister-Hall Syndrome ITEMS: LINKS: National Library of Medicine Pallister-Hall syndrome, its synonyms, a summary and a list of major features. (Rating: 0.00 Votes: 0) Rate It Pallister-Hall Foundation The Pallister-Hall Foundation (Aust.) is a non-profitable charitable Organization that supports Pallister-Hall Syndrome [PHS] patients, their families, carers and medical providers. (Rating: 0.00 Votes: 0) Rate It Pallister-Hall Syndrome Synonyms, Symptoms, Causes, Associated Abnormalities, Diagnosis, Treatment, with Dictionary of Abbreviations and Medical Terminology for Patients (Rating: 8.67 Votes: 3) Rate It pallisterhall.com A patient's reference guide, dictionaries, foundations, grants, etc... (Rating: 0.00 Votes: 0) Rate It Yahoo! Groups : Pallister-Hall Syndrome Details and instructions for joining, posting and reading the mail for this email support group. (Rating: 0.00 Votes: 0)

17. Genetic Disorders : Meddie Health Search Noonan Syndrome (5). Opitz Syndrome (4). Pallister Killian Mosaic Syndrome (3).pallisterhall syndrome (7). Personal Pages (8). Popliteal Pterygium Syndrome (2). http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. (Rating: 0.00 Votes: 0)

18. Hall-Pallister Syndrome (www.whonamedit.com) Also known as pallisterhall syndrome Synonyms Congenital hypothalamic hamartoblastoma,hamartopolydactyly syndrome, hypothalamic hamartoblastoma http://www.whonamedit.com/synd.cfm/506.html

Home List categories Eponyms A-Z Biographies by country ... Contact Hall-Pallister syndrome Also known as: Pallister-Hall syndrome Synonyms: Congenital hypothalamic hamartoblastoma, hamartopolydactyly syndrome, hypothalamic hamartoblastoma-hyperphalangeal hypoendocrine-hypoplastic anus (4H) syndrome, microphallus-imperforate anus syndactyly-hamartoblastoma-abnormal lung lobulation-polydactyly (MISHAP) syndrome, renal-anal-lung-polydactyly-hamartoblastoma (RALPH) syndrome. Associated persons: Judith G. Hall Philip D. Pallister Description: Distinct malformation with hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and postaxial polydactyly. Some patients also exhibit laryngeal clefts, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short fourth metacarpals, congenital heart defect, and growth retardation. Death usually occurs within the first weeks of life. According to some writers this is a sporadic condition; according to others it is an autosomal dominant trait. Maternal insecticide and pesticide exposure were reported in some instances. The condition is extremely rare. Judith G. Hall and associates in 1980 defined the disease picture based on the observation of 6 children.

19. Www.whonamedit.com Pallister's syndrome. Pallister's tetrasomy syndrome. pallisterhall syndrome.Pallister-Killian syndrome. Pallister-Teschler-Nicola and Killian syndrome. http://www.whonamedit.com/azeponyms.cfm/P.html

Home List categories Eponyms A-Z Biographies by country ... Z Eponyms beginning with P: Pacchioni's bodies Pacchioni's depressions Pacini's corpuscles Pacinian bodies ... Ole Daniel Enersen

20. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Sites. National Library of Medicine pallisterhall syndrome, its synonyms,a summary and a list of major features. NORD - Pallister http://www.1uphealth.com/links/genetic-disorders-pallister-hall-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Pallister-Hall Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Sites National Library of Medicine Pallister-Hall syndrome, its synonyms, a summary and a list of major features. NORD - Pallister Hall Syndrome Offers the synonyms, a general discussion and further resources. Pallister-Hall Foundation (Australia) Resource and reference about Pallister-Hall Syndrome. Pallister-Hall Syndrome: A Layman's Guide PHS, its causes,symptoms, the abnormalities, findings, diagnosing, treatment together with Dictionary of Abbreviations and Terms for Patients. Pallister-Hall Syndrome [PHS]: A Layman's Guide Resources for PHS patients, their carers, specialists, and medical practitioners. Yahoo! Groups : Pallister-Hall Syndrome

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