81. Pallister-Hall Resources At Nhgri http://research.nhgri.nih.gov/PHS

82. Pallister Hall Syndrome 20012003. www.pallisterhall.com Jones EK. PALLISTER HALL syndrome. Contact aFamily. Last Updated; October 20012pp. www.cafamily.org.uk/Direct/p07.html. http://www.bchealthguide.org/kbase/nord/nord1016.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord1016"; var hwDocTitle="Pallister Hall Syndrome"; var hwRank="1"; var hwSectionHWID="nord1016"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Pallister Hall 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 Hall-Pallister Syndrome PHS Congenital hypothalamic hamartoblastoma syndrome CAVE (cerebro-acro-visceral early lethality) complex Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Grieg cephalo-polysyndactyly syndrome Isolated postaxial polysyndactyly type A Holt-Oram Syndrome McKusick-Kaufman syndrome Oral-Facial-Digital Syndrome Hydrolethalus Syndrome Smith-Lemli-Opitz Syndrome General Discussion Symptoms Symptoms and findings in individuals with Pallister Hall syndrome may vary greatly in range and severity from case to case. Whereas some affected individuals may have only a few characteristic abnormalities (e.g., hypothalamic hamartoblastoma, polydactyly), others may have a majority of symptoms and physical features associated with the disorder.

83. PALLISTER HALL SYNDROME: Contact A Family - For Families With Disabled Children: printer friendly, PALLISTER HALL syndrome, A support group for PallisterHallsyndrome has not yet been established in the UK. However http://www.cafamily.org.uk/Direct/p07.html

printer friendly PALLISTER HALL SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Pallister-Hall syndrome: Ano-Cerebro-Digital syndrome; CAVE Lethality Multiplex syndrome; Cerebro-Acro-Visceral Early Lethality Multiplex syndrome; Hypothalamic Hamartoblastoma syndrome Children with this syndrome are born with congenital malformations of: The brain - typically there is a tumour called a hamartoma or hamartoblastoma of the hypothalamus; this is adjacent to the pituitary gland, the function of which is impaired, and there may be other brain malformations as well. The anus (back passage) - The imperforate anus, or anal stenosis results in the newborn baby being unable to pass stools. This can readily be dealt with by a surgical operation to make a proper opening to the outside. The hands - Typically there is an extra finger (polydactyly). The extra finger may in fact be very small and can easily be surgically removed. Sometimes instead there are other abnormalities of the hands. Some fingers may be partly joined together (syndactyly). This can be put right by surgery. Sometimes there are other abnormalities of the fingers, for example they may be rather short. The pituitary gland is a kind of outgrowth from the brain, situated beneath it. The posterior or back part of the pituitary gland produces a hormone which regulates how the body handles water. If it is not functioning adequately then the body cannot retain water properly, a condition known as diabetes insipidus (see entry

84. Index C: Contact A Family - For Families With Disabled Children: Information On CADASIL CAH see Congenital Adrenal Hyperplasia CAIS see Androgen Insensitivity syndromeCATCH 22 see 22q11 Deletions CAVE see Pallister Hall syndrome CBD see http://www.cafamily.org.uk/Idx/c.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. C1 Esterase Inhibitor Deficiency C1 Inhibitor Deficiency see C1 Esterase Inhibitor Deficiency CADASIL CAH see Congenital Adrenal Hyperplasia CAIS see Androgen Insensitivity syndrome CATCH 22 see 22q11 Deletions CAVE see Pallister Hall syndrome CBD see Corticobasal Degeneration CBPS see Congenital Bilateral Perisylvian syndrome CD40 Ligand Deficiency see Primary Immunodeficiencies CDH see Congenital Dislocation and Developmental Dysplasia of the Hip CGD see Chronic Granulomatous Disorder CHARGE Association CHT see Thyroid Disorders CIDP see CJD see Creutzfeldt-Jakob disease CLL see Leukaemia and other allied blood disorders CML see Leukaemia and other allied blood disorders CMN see Congenital Melanocytic Naevi CMT see Charcot-Marie-Tooth disease CMV see Cytomegalovirus COFS see Cockayne syndrome COPD see Lung diseases COX see Metabolic diseases and see Mitochondrial Cytopathies and related disorders CPD-Choline Phosphotrasferase deficiency see

85. 1886: Pallister Hall Syndrome:early Diagnosis And Natural History. Program Nr 1886 Pallister Hall syndromeearly diagnosis and natural history. Thesecases demonstrate important clinical aspects of Pallister Hall syndrome. http://www.faseb.org/genetics/ashg99/f1886.htm

Program Nr: 1886 Pallister Hall syndrome:early diagnosis and natural history. N.J. Mendelsohn , C. Ludowese , R. Kriel , O.A. Schirripa , D.K. Manchester , L.G. Biesecker 1) Dept Pediatrics/Med Genetics, Hennepin County Medical Center, Minneapolis, MN; 2) University of Minnesota, Minneapolis, MN; 3) University of Colorado Health Sciences Center; 4) GDRB, NIH/NHGRI, Bethesda, MD. Pallister Hall Syndrome(PHS) is a condition with hypothalmic hamartoma(HH), polydactyly, bifid epiglottis and visceral anomalies. Hall et al first delineated the syndrome in 1980. Multiple case reports have broadened the diagnostic features from a lethal presentation to one where multiple generations are affected in an autosomal dominant manner. We report two infants diagnosed at an early age with a large HH and polysyndactyly. These infants demonstrate the imporance of early recognition and diagnosis as well as the natural history of PHS. A 1st patient presented at ten weeks of age with polydactyly and feeding difficulties. ENT consultation revealed bifid epiglottis. A cerebral MRI disclosed a large suprasellar mass. Neurosurgical resection was planned but afer extensive discussion and evidence of no change in size of the mass, He was diagnosed with a benign HH as part of the PHS. A 2nd child presented at 16 days of age with polysyndactyly and a UTI. Further evaluation revealed an anterior rectal fistula. MRI of her head disclosed a HH. We present photographs of the children, subsequent MRIs, growth charts and results of endocrinologic evaluations.

86. The Medword List - Medical Transcription Directory - The Medword List - Conditio Organizations ( 5 ). Pallister Killian Mosaic syndrome ( 0 ). PallisterHallsyndrome ( 1 ). Personal Pages ( 2 ). Popliteal Pterygium syndrome ( 1 ). http://www.medwordlist.com/Conditions_and_Diseases/Genetic_Disorders/

Top Level Conditions and Diseases : Genetic Disorders Categories: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome Links: Genetic and Rare Conditions Site popular Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. http://www.kumc.edu/gec/support/ (Added: Mon Jan 01 2001 Hits: 45 Rating: 0.00 Votes: ) Rate It Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. http://www.geneclinics.org (Added: Mon Jan 01 2001 Hits: 24 Rating: 0.00 Votes: ) Rate It Primary Ciliary Dyskinesia Information on a rare congenital disease. http://www.p-c-d.org/en/ (Added: Mon Jan 01 2001 Hits: 17 Rating: 0.00 Votes: ) Rate It Spellex medical spell checker is the most up-to-date, and accurate speller ever developed. Perfect for MT work. Medword Store ARISTA 2000 TENS unit provides relief from various types of muscle pain like repetitive stress injury from typing.

87. Hum. Mol. Genet. -- Abstracts: Böse Et Al. 11 (9): 1129 9 11291135 © 2002 Oxford University Press Pallister–Hall syndrome phenotypein mice mutant for Gli3. Jens Böse , Lars Grotewold and Ulrich Rüther * http://hmg.oupjournals.org/cgi/content/abstract/11/9/1129

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Full Text of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Alert me when: new articles cite this article Download to Citation Manager Human Molecular Genetics, 2002, Vol. 11, No. 9 Oxford University Press Lars Grotewold and Mutations in the gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental which is associated with central polydactyly and other malformations. Interestingly, the mutations in the transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc finger-encoding domain, leaving this DNA-binding domain intact. We have investigated the consequences of this mutation on the development of multiple organ systems by introducing a targeted mutation in mice. We found that mice homozygous for

88. Birth Disorder Information Directory - P syndrome See Schinzel syndrome. Pallister Hall syndrome (Hypothalamic Hamartoblastoma,Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) http://www.bdid.com/defectp.htm

HOME P P-4 Deletion Syndrome A nationally recognized not-for-profit pre-school and therapeutic center for children with and without developmental delays ages 18 months to five years p47-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type I p67-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type II Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) PACHYDERMOPERIOSTOSIS; PDP Pachyonychia Congenita See Jadassohn Lewandowsky Syndrome Pagod Syndrome See Kennerknecht Sorgo Oberhoffer Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Anemia sideroblastic spinocerebellar ataxia ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT Pagon Syndrome See Walker Warburg Syndrome Pallister Syndrome See Schinzel Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Hall syndrome:early diagnosis and natural history PALLISTER-HALL SYNDROME; PHS Also see McKusick Kaufman Syndrome Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2

89. HeartCenterOnline For Patients - For Your Heart Health Hall syndrome II (Pallister Hall syndrome). Hamartopolydactyly syndrome(Pallister Hall syndrome). Hardening of the Arteries (Atherosclerosis). http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=H&curpa

90. HeartCenterOnline For Patients - For Your Heart Health Minimally Invasive Heart Valve Surgery. Minimally Invasive Vein Harvesting (EndoscopicVein Harvesting). MISHAP syndrome (Pallister Hall syndrome). Mitral Atresia. http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=M&curpa

91. Gimenei >> Health >> Conditions_and_Diseases >> Genetic_Disorders >> Pallister-H Gimenei.com, Search for Scope All Words, Results per page 10.Request Timeout 2, http://www.gimenei.com/directory/top/Health/Conditions_and_Diseases/Genetic_Diso

Search for: Scope: All Words Any Word Phrase Results per page: Request Timeout: Search Depth: Gimenei Health Conditions and Diseases Genetic Disorders Pallister Hall Syndrome Music: Mass Music: The Dreaded P.D.Q. Bach - if you cant sing and laugh at the same time just wait til he tries to do a Rap song. look for my favorite song of his "o little town of hackensack" for christmas time Music: Essential Guitar: 33 Guitar Masterpieces - Either one of the two CDs are worth the asking price. The two together are a deal of a lifetime. Just read the list of performers - John Williams, Julian Bream, Pepe Romero, Andreas Segovia - this alone should tell you you're in for a treat! The first CD starts with Pepe Romero's famous performance of the Rodrigo Guitar Concerto. Romero's delivery is crisp and vibrant, perhaps one of the best recordings of this piece that exists today. The Asturias (also played by Romero) is another of my favorites, closely followed by the Bach transcriptions. The rest of the tracks (37 in all) are all similarly excellent. I wish I could write more, but my wife waits impatiently. Buy it - I promise you'll love it. Baby Product: Wall Dressing Table and Desk in Natural - We found the Malawi style to be perfect. We do not want to know the sex of our baby, so this was a perfect fit for a neutral colored room. We have 8-ft ceilings and my husband painted a light yellow color, 3-ft down from the ceiling (all the way around the room)and then painted the remaining 5-ft down to the floor (all the way around the room) in a light green color. We then put the border up between the two colors and it turned out great. We are very proud of the way it looks and the border was so easy to put up on the walls. We are going to make some other things for the room using some of the remaining border roll. We would recommend this to anyone wanting a neutral room, especially if you want the sex of your baby to be a surprise when she/he is born.

92. Pallister-Hallin Oireyhtymä Kehitysvammahuollon tietopankki. Synnynnäinen väliaivojen alaosan epämuodostumakasvain,liikasormisuus, poikkeavat kasvot, munuaisvika http://www.saunalahti.fi/kup/syndroma/hall_2.htm

Kehitysvammahuollon tietopankki Synnynnäinen väliaivojen alaosan epämuodostumakasvain, liikasormisuus, poikkeavat kasvot, munuaisvika ja puutteellinen umpieritys Pallister-Hallin oireyhtymä Hallin oireyhtymä II Hall-Pallisterin oireyhtymä Hypotalaminen epämuodostumakasvainoireyhtymä Synnynnäinen väliaivojen alaosan epämuodostumakasvain Oireyhtymä koostuu väliaivojen alaosan (hypotalamus) epämuodostumakasvaimen lisäksi kallon ja kasvojen poikkeavuudesta, liikasormisuudesta, umpierityksen ja munuaisten vioista sekä toisinaan psyykkisestä kehitysvammaisuudesta Vammautuneen pää voi näyttää epäsymmetriseltä. Leuka on pieni ja kasvojen keskiosa lyhyt. Taakse kiertyneet korvat sijaitsevat matalalla. Nenä voi olla litteä ja sieraimet eteen kallistunet. Kieli saattaa olla pieni, kiinnityspoimu poskenpuoleinen, suulaessa ja kurkunpäässä voi olla halkio. Ikenissä esiintyy kasvaimia. Liikasormisuuden lisäksi oireisiin voi kuulua sormi- ja varvaspuutoksia sekä yhteen kasvua. Sormet ja varpaat voivat olla myös vajaakasvuiset. Kolmas kämmenluu voi olla haljennut. Toisinaan raajat ovat lyhyet ja kyynärpäät menneet sijoiltaan. Kynnet saattavat olla vajaakasvuiset, etuaivot ja keuhkot puutteelliset. Keuhkot voivat olla myös epänormaalisti lohkoutuneet ja kurkunkansi kehittymätön tai haljennut. Sydänvikoja ovat avoin valtimonkäytävä, kammioväliseinävauriot, hiippaläpän tai aortan läpän viat sekä aortan karkearakenteisuus. Ruoansulatusjärjestelmän ongelmiin liittyy umpeutunut peräaukko ja virtsateiden häiriöihin munuaisten nurin kääntyminen tai kehittymättömyys, kivesten vajaakasvuisuus, piilokivekset ja peniksen pienuus. Umpieritystoiminnalle on leimallista adrenaliinin puute ja kilpirauhasen vajaatoiminta.

93. Karger Publishers External Resources 3 Finnigan DP, Clarren SK, Haas JE Extending the PallisterHallsyndrome to include other central nervous system malformations. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

94. MEDLINE For Gene 384 NCBI1605268 Kuller JA, Kuller JA;Cox VA;Schonberg SA;Golabi M PallisterHallsyndrome associated with an unbalanced chromosome translocation. http://caroll.vjf.cnrs.fr/cgi-bin/Abin/Amedline.sh?&id=384

95. WebGuest Directory - Health : Conditions And Diseases : Genetic Disorders : Pall Health Conditions and Diseases Genetic Disorders PallisterHallSyndrome. Related categories Health/Conditions and Diseases/Rare http://directory.webguest.com/Health/Conditions_and_Diseases/Genetic_Disorders/P

Health Conditions and Diseases Genetic Disorders : Pallister-Hall Syndrome Related categories: Health/Conditions and Diseases/Rare Disorders Sites: NORD: Pallister Hall Syndrome - Offers the synonyms, a general discussion and further resources. National Library of Medicine - Pallister-Hall syndrome, its synonyms, a summary and a list of major features. Pallister-Hall Syndrome: A Layman's Guide - For PHS patients, their care givers, and medical practitioners. Yahoo! Groups : Pallister-Hall Syndrome - Details and instructions for joining, posting and reading the mail for this email support group. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Modified and enhanced by WebGuest.com. This Web site conforms to the highest standards of the World Wide Web Consortium Site Map

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-95 of 95    Back | 1  | 2  | 3  | 4  | 5