81. Index C: Contact A Family - For Families With Disabled Children: Information On CAVE see Pallister Hall syndrome CBD see Corticobasal Degeneration CBPS seeCongenital Bilateral Perisylvian syndrome CD40 Ligand Deficiency see Primary http://www.cafamily.org.uk/Idx/c.html

printer friendly home how we can help medical information ... how you can help Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files: numbers 0-9 A B C ... Z 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 CFIDS see Chronic Fatigue syndrome / Myalgic Encephalopathy CFS/ME see Chronic Fatigue syndrome / Myalgic Encephalopathy CGD see Chronic Granulomatous Disorder ChAc see Neuroacanthocytosis disorders CHARGE Association CHT see Thyroid Disorders CIDP see CJD see Creutzfeldt-Jakob disease CLL see

82. Hill Health Topics A-Z - Pallister Hall Syndrome Pallister Hall syndrome. National Organization for Rare Disorders. Important Itis possible that the main title of the report Pallister Hall syndrome is not http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord1016&S

83. Pallister Hall Syndrome Synonyms, Eastern Carolina Pallister Hall syndrome Synonyms University Health Systems of Eastern Carolinaserves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/113823.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Pallister Hall Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Pallister Hall 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 Hall-Pallister Syndrome PHS Congenital hypothalamic hamartoblastoma syndrome CAVE (cerebro-acro-visceral early lethality) complex Disorder Subdivisions None General Discussion Resources American Brain Tumor Association 2720 River Road Suite 146 Des Plaines, IL 60018 USA Tel: 8478279910 Fax: 8478279918 Tel: 8008862282 Email: info@abta.org Internet: http://www.abta.org Hydrocephalus Association 870 Market Street Suite 705 San Francisco, CA 94102 USA Tel: 4157327040 Fax: 4157327044 Tel: 8885983789 Email: info@hydroassoc.org Internet: http://www.hydroassoc.org

84. Birth Disorder Information Directory - P Pallister Hall syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, ImperperforateAnus, Pallister Hall syndromeearly diagnosis and natural history 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

85. EMedicine - Smith-Lemli-Opitz Syndrome : Article By Robert D Steiner, MD Language disorder, mixed Language disorder, receptive Meckel syndrome PallisterHallsyndrome Steroid sulfatase deficiency Ullrich-Feichtiger syndrome http://www.emedicine.com/ped/topic2117.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Smith-Lemli-Opitz Syndrome Last Updated: July 1, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: RSH syndrome, SLOS, multiple congenital anomalies/mental retardation syndrome, MCA/MR, congenital malformations, dysmorphic facial features, microcephaly, toe syndactyly, learning disabilities, behavioral disabilities, gene AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Coauthor(s): Laura S Martin, MD , Director, Department of Medical Genetics, Rockford Health System; Roderick F Hume, MD

86. Gene Expression Atlas: Text Query extannot none phenotype Greig cephalopolysyndactyly syndrome;PallisterHallsyndrome;Polydactyly, postaxial, types A1 and B;Polydactyly, preaxial, type IV; http://expression.gnf.org/cgi-bin/index.cgi?text=40358_at

87. Newsletters Pallister Hall syndrome (PHS). Subcutaneous Immunoglobulin Therapy in PrimaryAntibody Deficiencies. back to top http://www.agsa-geneticsupport.org.au/newsletters.html

AGSA Newsletter Archive (April 1989-December 1999) Below is a list of past issues of our newsletter and details of the major article covered in each issue. If you wish to purchase copies of previous newsletters they are available at a cost of $5.00 (AUD) per issue. Please send a cheque to cover the printing and delivery costs to AGSA. Select a year of interest, or scroll through our archive to find relevant articles. ISSUE PROFILING December 2004 Primary Immunodeficiency diseases August 2004 Francis Crick, April 2004 Gaucher's Disease October/December 2003 Hypoplastic Left Side Heart Syndrome August 2003 Vater Association April - June 2003 Xeroderma Pigmentosa February 2003 Methylmalonic Acidemia [back to top] December 2002 Trichiothiodystrophy (Tay syndrome) October 2002 Pre-implantation Genetic Diagnosis Guardianship August 2002 Agenesis of the Corpus Callosum June 2002 Incontinentia Pigmenti April 2002 Lupus Cutis Lax February 2002 Pallister - Hall Syndrome (PHS) Subcutaneous Immunoglobulin Therapy in Primary Antibody Deficiencies [back to top] December 2001 Protection of Human Genetic Information October 2001 August 2001 Rare Chromosomes June 2001 Diagnosis of rare disorders April 2001 Lowes Syndrome

88. Congenital Heart Disease - Heart Disease And Other Cardiovascular Conditions On Kartagener syndrome, MeckelGruber syndrome, Noonan syndrome Pallister-Hallsyndrome, Rubinstein-Taybi syndrome, Scimitar syndrome, Smith-Lemli-Opitz http://www.medicinenet.com/congenital_heart_disease/page3.htm

document.writeln(''); MedicineNet Home Heart Home Page > Congenital Heart Disease Search Tips Printer-Friendly Format FREE Newsletters Email to a Friend Previous Congenital Heart Disease Center Next Congenital Heart Disease (cont.) In this Article What is congenital heart disease (CHD)? How common is congenital heart disease? When is the diagnosis of congenital heart disease (CHD) usually made? Why are most cases of CHD not a problem before birth? What causes congenital heart defects? What are the symptoms and signs of CHD? What are the types of congenital heart disease? Which congenital heart defects are most frequent? How is CHD treated? ... Congenital Heart Disease Center What causes congenital heart defects? Congenital heart disease can have diverse causes. The causes include environmental factors (such as chemicals, drugs or infections), certain maternal diseases, chromosome abnormalities, genetic diseases, and unknown (idiopathic) factors. Environmental factors sometimes are at fault. For example, if a mother catches German measles (rubella) during pregnancy, the infection can impair the development of her unborn baby's heart (and other organs). If the mother consumes alcohol during pregnancy, the fetus can suffer from

89. Centre For Genetics Education:: Disorder Information And Support Pallister Hall syndrome Pallister Killian syndrome Parkinson Disease Partingtonsyndrome Peho syndrome Pelizaeus Merzbacher Disease Pemphigus Disease http://www.genetics.com.au/conditions/main.htm

A Aarskog Syndrome Achondroplasia Acoustic Neuroma Acrocallosal Syndrome Acromegaly Adams Oliver Syndrome Addison Disease Adrenoleukodystrophy Agenesis Of Corpus Callosum Aicardi Syndrome Alagille Syndrome Albinism Albright Hereditary Osteodystrophy Alexander Disease Alopecia Alpers Syndrome Alpha 1 Antitrypsin Deficiency Alpha-Thalassaemia X Linked Mental Retardation Syndrome Alpha-Thalassemia Mental Retardation Syndrome Deletion ATR 16 Alport Syndrome Alstrom Syndrome Alzheimer Disease *** Amyotrophic Lateral Sclerosis Androgen Insensitivity Syndzrome Anencephaly *** Angelman Syndrome Angioedema Ankylosing Spondylitis Apert Syndrome Aplasia Cutis Congenita Argininosuccinic Aciduria Arthrogryposis Multiplex Asperger Syndrome Ataxia Telangiectasia Autism Autoimmune Lymphoproliferative Syndrome Autoimmune Polyglandular Disease Type 1 B Bannayan Riley Ruvalcaba Syndrome Bardet Biedl Syndrome Bartter Syndrome Batten Disease Beckwith Wiedemann Syndrome Behcet Syndrome Behr Syndrome Bells Palsy Benign Essential Tremor Bipolar Disorder*** Blackfan Diamond Anemia Blepharophimosis Ptosis Epicanthus Inversus Syndrome Bloom Syndrome Borjeson Forssman Lehmann Syndrome Bowel Cancer *** Branchiootorenal Dysplasia Breast Cancer*** C Cadasil Camptomelic Dysplasia Cancer Cardiac Disorders *** Cardio Auditory Syndrome Cardiovascular Disease Carnitine Deficiency Syndromes Carpal Tunnel Syndrome Carpenter Syndrome Cartilage Hair Hypoplasia Cat Eye Syndrome Cavernous Malformations Ccc Syndrome Central Core Disease Cerebellar Agenesis Cerebral Palsy Cerebro Ocul0 Facio Skeletal Syndrome

90. HeartCenterOnline: Hall syndrome II (Pallister Hall syndrome) Hypothalamic Hamartoblastomasyndrome (Pallister Hall syndrome) Hypothyroidism Hypoxia http://heart.healthcentersonline.com/encyclopedia/h.cfm

iv_hideTacoda = true; Patients Professionals Home Register Member Log In ... Increase Type Size Featured Centers Cholesterol Blood Pressure Heart Failure Arrhythmia Coronary Artery Disease Free Newsletter! Medical Encyclopedia - Topics A to Z Welcome to the HeartCenterOnline Medical Encyclopedia Topic list, edited by the HealthCentersOnline Physician Advisory Board. Click a letter to see a list of topics. If you cannot find the term you are looking for, click here to let us know. A B C D ... Z Hall Syndrome II (Pallister Hall Syndrome) Hamartopolydactyly Syndrome (Pallister Hall Syndrome) Hardening of the Arteries (Atherosclerosis) Hashimoto Disease (Hypothyroidism) Hb A1c (Glycohemoglobin Test) HDL (High Density Lipoprotein) HDL Cholesterol (High Density Lipoprotein) HDL Test (Cholesterol Test) Head Artery Endoscopy (Endoscopy) Health Benefits of Pets Health Claims Health Maintenance Organization Health Question (Questions for Your Cardiologist) Health Risk Appraisal (Coronary Risk Profile) Healthcare Proxy Healthy Eating Out (Eating Healthy When Eating Out) Healthy Weight Heart Heart Anatomy Heart Aneurysm (Ventricular Aneurysm) Heart Arrest (Cardiac Arrest) Heart Assist Pump (Ventricular Assist Device) Heart Atrophy (Cardiac Atrophy) Heart Attack Heart Block Heart Bypass Surgery (Coronary Artery Bypass Surgery) Heart Catheterization (Cardiac Catheterization) Heart Clasp (Heart Jacket) Heart Defect (Congenital Heart Disease) Heart Diet (Heart Healthy Diet) Heart Disease Heart Disease and Women Heart Enlargement (Enlarged Heart) Heart Failure Heart Failure Class

91. From The Grand Rounds Archive At Baylor Pallister Hall syndrome is an autosomal dominant inheritance and includes congenitalhypothalamia, hamartoblastoma, hypopituitarism, imperforate anus and http://www.bcm.edu/oto/grand/72894.html

Grand Rounds Archives The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at The Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature. LARYNGOTRACHEOESOPHAGEAL CLEFT July 28, 1994 Jennifer Parker Porter, M.D. Laryngotracheoesophageal cleft (LTEC) is a congenital midline defect of the posterior larynx and trachea and the anterior wall of the esophagus. The classification scheme of LTEC that is most widely used classification, and the one that will be reference here, is that of Benjamin and Inglis that divides the clefts into 4 types based on function. Type I involves interarytenoid musculature, Type II involves the cricoid only, Type III involves the proximal LTE and Type IV involves the thoracic TE septum. Embryogenesis of the tracheoesophageal septumis are important in the development of LTEC. Ridges of endodermal cells develop from the lateral walls of foregut. They unite within the lumen of the foregut dividing into ventral respiratory and dorsal digestive portion. The TE septum develops in a caudal to rostral fashion and should be complete up to the level of the first ring of the trachea by the fifth intrauterine week. LTEC develops as a result of failure of the TE septum to fully develop. The phase at interruption determines the length of the cleft.

92. A Listing Of Disorders Pallister Hall syndrome. Pallister Killian Mosaic syndrome. Pallister W syndrome.Papillitis. Papillon Lefevre syndrome. Paracoccidioidomycosis http://medschool.umaryland.edu/BTBank/Family/Disorders_P.htm

Brain and Tissue Bank University of Maryland, Baltimore P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome Pallister Killian Mosaic Syndrome Pallister W Syndrome Papillitis Papillon Lefevre Syndrome Paracoccidioidomycosis Paramyotonia Congenita Paraplegia, Hereditary Spastic Parkinson's Disease Parkinson's Disease, Idiopathic Parry Romberg Syndrome Pars Planitis Parsonage Turner Syndrome Patulous Eustachian Tube Peeling Skin Syndrome Pelizaeus Merzbacher Brain Sclerosis Pemphigoid, Benign Mucosal Pemphigus Penta X Syndrome Pentalogy of Cantrell PEPCK Deficiency, Mitochondrial Perisylvian Syndrome, Congenital Bilateral Perniosis Peroxisomal Disorder Peutz Jeghers Syndrome Peyronie Disease Pfeiffer Syndrome Type I Phenylketonuria Pheochromocytoma Phocomelia Syndrome Phosphoglycerate Kinase Deficiency Pick's Disease Pierre Robin Syndrome Pinta Pityriasis Rubra Pilaris Pneumonia, Eosinophilic Pneumonia, Interstitial POEMS Syndrome Poland Syndrome Polyarteritis Nodosa Polychondritis Polycystic Kidney Diseases Polycystic Liver Disease Polycythemia Vera Polyglucosan Body Disease, Adult

93. 1886: Pallister Hall Syndrome:early Diagnosis And Natural History. Genotypes and phenotypesA similar situaton has been reported for other genes, such as the Gli3 gene (mutationscause either Pallister Hall syndrome, or Greig 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.

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