21. Cerebrohepatorenal Syndrome Prev Term cerebroatrophic hyperammonemia Next Term cerebrooculorenal syndrome.cerebrohepatorenal syndrome. Used for. congenital iron overload http://crisp.cit.nih.gov/Thesaurus/00001483.htm

Prev Term: cerebroatrophic hyperammonemia Next Term: cerebrooculorenal syndrome cerebrohepatorenal syndrome Used for: congenital iron overload Used for: Zellweger syndrome Broader Terms: congenital brain disorder Broader Terms: congenital kidney disorder Broader Terms: genetic disorder Broader Terms: liver disorder Broader Terms: syndrome Related Terms: autosomal recessive trait Scope Note: autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood. Term Number: Send your comments to: Melody Lowe

22. Syndrome Narrower Terms. cerebrohepatorenal syndrome. Narrower Terms Narrower Terms.respiratory distress syndrome of newborn. Narrower Terms. Rett syndrome http://crisp.cit.nih.gov/Thesaurus/00007863.htm

Prev Term: syndecan Next Term: Synechococcus syndrome Used for: Alstrom syndrome Used for: Bardet Biedel syndrome Used for: Brachmann de Lange syndrome Used for: Cornelia de Lange syndrome Used for: de Lange syndrome Used for: dumping syndrome Used for: Eaton Lambert syndrome Used for: Joubert syndrome Used for: Kenny Caffey syndrome Used for: Lambert Eaton myasthenic syndrome Used for: Lambert Eaton syndrome Used for: LEOPARD syndrome Used for: MLS (Multiple Lentigines /LEOPARD syndrome) Used for: Multiple Lentigines Used for: Multiple Lentigines /LEOPARD syndrome Used for: myasthenic syndrome of Lambert Eaton Used for: Peutz Jeghers syndrome Used for: postgastrectomy syndrome Used for: postpericardiotomy syndrome Used for: Rabson Mendenhall syndrome Used for: Saethre Chotzen syndrome Used for: van der Woude syndrome See for: VDWS Broader Terms: disease /disorder Narrower Terms: adult respiratory distress syndrome Narrower Terms: AIDS Narrower Terms: Alagille syndrome Narrower Terms: Alport syndrome Narrower Terms: antiphospholipid syndrome Narrower Terms: Barretts esophagus Narrower Terms: Bartter's syndrome Narrower Terms: Behcet's syndrome Narrower Terms: Bloom syndrome Narrower Terms: carpal tunnel syndrome Narrower Terms: cerebrohepatorenal syndrome Narrower Terms: Chediak Higashi syndrome Narrower Terms: chronic fatigue syndrome Narrower Terms: Conn's syndrome Narrower Terms: cri du chat syndrome Narrower Terms: Cushing's syndrome Narrower Terms: deToni Fanconi syndrome Narrower Terms: DiGeorge's syndrome Narrower Terms: Downs syndrome Narrower Terms: Ehlers Danlos syndrome Narrower Terms:

23. Zellweger Syndrome Zellweger Syndrome is a rare hereditary disorder affecting infants. Synonyms.Bowen Syndrome; cerebrohepatorenal syndrome http://www.bchealthguide.org/kbase/nord/nord363.htm

var hwPrint=1;var hwDocHWID="nord363";var hwDocTitle="Zellweger Syndrome";var hwRank="1";var hwSectionHWID="nord363-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Zellweger Syndrome Important It is possible that the main title of the report Zellweger 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 Bowen Syndrome Cerebrohepatorenal Syndrome Disorder Subdivisions None General Discussion Zellweger Syndrome is a rare hereditary disorder affecting infants. It is characterized by reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the major manifestations of Zellweger Syndrome. Resources The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910

24. Hill Health Topics A-Z - Zellweger Syndrome It is possible that the main title of the report Zellweger Syndrome is not thename you expected. Synonyms. Bowen Syndrome; cerebrohepatorenal syndrome http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord363&SE

25. Cerebrohepatorenal Syndrome - General Practice Notebook Zellweger syndrome is also called cerebrohepatorenal syndrome. Generally, thecondition presents shortly after birth with generalized muscular weakness, http://www.gpnotebook.co.uk/cache/1651179555.htm

cerebrohepatorenal syndrome Zellweger syndrome is also called cerebrohepatorenal syndrome. Generally, the condition presents shortly after birth with generalized muscular weakness, hypotonia and cardiomegaly; it is usually fatal within the first few months of life. Click here for more information...

26. Cerebrohepatorenal Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/CEREBROHEPATORE

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Cerebrohepatorenal syndrome, see Zellwegers syndrome CNS manifestation FS The Encyclopaedia of Medical Imaging Volume VI 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

27. Zellweger S Syndrome (HU Zellweger, born 1909, Swissborn American paediatrician), (also calledcerebrohepatorenal syndrome), one of the peroxisome disorders, a rare disease http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/ZELLWEGERS SYNDR

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Zellweger's syndrome, (H.U. Zellweger, born 1909, Swiss-born American paediatrician), (also called cerebrohepatorenal syndrome), one of the peroxisome disorders, a rare disease with autosomal recessive inheritance. Clinical onset in childhood with muscular hypotonia, decreased reflexes, psychomotor retardation, fits, hepatomegaly and mild craniofacial dysmorphism. The condition is due to absence of peroxisomes in hepatocytes, and proximal renal tubular cells. The radiological manifestation is that of calcification in the periarticular regions of the joints and in cartilage, and cortical renal cysts seen on ultrasound. In addition, there is microgyria and pachygyria demonstrable on MRI. The marked degree of calcification in the patella helps to distinguish this from chondrodysplasia punctata. NW The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

28. Cerebrohepatorenal Syndrome (syn. Of Zellweger Syndrome) ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity. ol class=w li REDIRECT Zellweger s syndrome /li /ol http://www.thirdaid.com/conditions/Cerebrohepatorenal_Syndrome.htm

29. Mental Conditions Zellweger Syndrome. (cerebrohepatorenal syndrome , Bowen Syndrome ). ZellwegerSyndrome. (cerebrohepatorenal syndrome , Bowen Syndrome ) http://www.thirdaid.com/index/qfm/fuseaction/registrationStep3/catalog_id/10520/

30. Cerebrohepatorenal Syndrome - Talk Medical Humanfriendly medical definition of cerebrohepatorenal syndrome. http://www.talkmedical.com/medical-dictionary/2716/Cerebrohepatorenal-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Cerebrohepatorenal Syndrome Cerebrohepatorenal syndrome: A genetic disorder, which is also called the Zellweger syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur. There is no cure for Zellweger syndrome and there is no standard course of treatment. Infections are guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.

31. Zellweger Syndrome - Talk Medical Humanfriendly medical definition of Zellweger Syndrome. also called thecerebrohepatorenal syndrome, characterized by the reduction or absence of http://www.talkmedical.com/medical-dictionary/15624/Zellweger-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Zellweger Syndrome Zellweger syndrome: A genetic disorder, also called the cerebrohepatorenal syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur. There is no cure for Zellweger syndrome and there is no standard course of treatment. Infections are guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.

32. Cerebrohepatorenal Syndrome - Descipher Health Do you have lab results? cerebrohepatorenal syndrome. From Descipher Health.(Redirected from Zellweger syndrome). http://www.descipher.com/health/info/Zellweger_syndrome

Do you have lab results? Cerebrohepatorenal syndrome From Descipher Health (Redirected from Zellweger syndrome Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms Zellweger syndrome edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Cerebrohepatorenal_syndrome Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

33. GASNet Anesthesiology: Contents A - C Bloch Sulzberger Syndrome. Bowen. Bowen Syndrome (cerebrohepatorenal syndrome).Bullae. Cockayne - Touraine Syndrome (Dystrophic Epidermolysis Bullae) http://www.gasnet.org/pediatric-syndromes/a2c_br.php

Contents A - C - pediatric syndromes - Acidosis Fanconi's Syndrome (Renal Tubular Acidosis) Albers Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Albright Albright - Butler Syndrome (Primary Distal Renal Tubular Acidosis) Albright McCune - Albright Syndrome Aldrich Wiskott - Aldrich Alström Alström Syndrome Analbumenia Analbumenia Analphalipoproteinemia Tangier Disease (Analphalipoproteinemia) Andersen Andersen Disease (Glycogen Storage Disease Type IV) Anderson Anderson Syndrome Angelman Angelman's Syndrome Angioneurotic Hereditary Angioneurotic Edema Angioosteohypertrophy Klippel - Trenaunay Syndrome (Angioosteohypertrophy) Anhydrotic Christ - Siemens - Touraine Syndrome (Anhydrotic Ectodermal Dysplasia) Apert Apert Syndrome Arnold Arnold - Chiari Malformation Arthogryposis Arthogryposis Multiplex Congenita Asphyxiating Jeune's Syndrome (Asphyxiating Thoracic Dystrophy) Ataxia Ataxia - Telangiectasia Ataxia Friedreich's Ataxia Auricular Goldenhar Syndrome (Auriculo Vertebral Syndrome) Bardet Bardet - Biedl Syndrome Barré Guillain - Barré Syndrome Bartter Bartter Syndrome Bassen Bassen - Kornzweig Syndrome Beckwith Beckwith - Wiedemann Syndrome Behçet Behçet Syndrome Blackfan Blackfan - Diamond Syndrome Biedl Bardet - Biedl Syndrome Biedl Lawrence - Moon - Biedl Syndrome Bloch Bloch - Sulzberger Syndrome Bowen Bowen Syndrome (Cerebrohepatorenal Syndrome) Bullae Cockayne - Touraine Syndrome (Dystrophic Epidermolysis Bullae) Butler Albright - Butler Syndrome (Primary Distal Renal Tubular Acidosis) Carpenter Carpenter Syndrome Central Core

34. Zellweger Syndrome cerebrohepatorenal syndrome; ZellwegerLike Syndrome; Cerebro-Hepato-RenalSyndrome; Zellweger Disease; Zellweger s Syndrome; Cerebro Hepato Renal Syndrome http://medical.webends.com/kw/Zellweger Syndrome

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Zellweger Syndrome An autosomal recessive peroxisomal disorder that typically presents in the neonatal period and is usually fatal. Clinical features include hypotonia, dysmorphic skull and facial bones , visual compromise, multifocal seizures hepatomegaly , biliary dysgenesis, and swallowing difficulties. Pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts. Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome , but occur in childhood or adulthood (From Adams et al., Principles of Neurology , 6th ed, p946) Google links Processing time was 0.036473989486694 seconds.

35. Birth Disorder Information Directory - Z Zellweger( s) Syndrome (cerebrohepatorenal syndrome). List of Sites. Zerres RietschelMajewski Syndrome (Microcephaly with Syndactyly and Brachymesophalangy http://www.bdid.com/defectz.htm

HOME Z Zadik Barak Levin Syndrome (Hypothyroidism Dermoid Cyst Cleft Palate) Dermoid cysts, hypothyroidism, cleft palate, and hypodontia. Zadik Barak Levin syndrome ZBLS ZAP70 Deficiency See Zeta-Associated-Protein 70 Deficiency Zazam Sheriff Phillips Syndrome (Aniridia with Lens Luxation and Mental Retardation) Aniridia, ectopia lentis, abnormal upper incisors and mental retardationan autosomal recessive syndrome Zazam Sheriff Phillips syndrome Aniridia lens luxation mental retardation Zellweger('s) Syndrome (Cerebrohepatorenal Syndrome) List of Sites Zerres Rietschel Majewski Syndrome (Microcephaly with Syndactyly and Brachymesophalangy) Microcephaly syndactyly brachymesophalangy Zeta-Associated-Protein (ZAP) 70 Deficiency List of Sites Zimmer Phocomelia (Amelia, X Linked) Zimmer Phocomelia ZIMMER Zimmer Taub Sova Syndrome (Tetraamelia Multiple Malformations) Zimmer Taub Sova Syndrome Zimmerman Laband Syndrome (Fibromatosis Gingival Hepatosplenomegaly Other Anomalies, Laband Syndrome) Laband Syndrome Zimmerman-Laband Syndrome: An Unusually Early Presentation in a Newborn Girl FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE AND EARS, AND SPLENOMEGALY Zimmerman Laband Syndrome ... Laband Syndrome Zinsser Cole Engman Syndrome See Dyskeratosis Congenita, Syndrome/X-Linked

36. Birth Disorder Information Directory - CA-CL Cerebrocostomandibular Syndrome. Cerebro costo mandibular syndrome CEREBROCOSTOMANDIBULAR SYNDROME. cerebrohepatorenal syndrome. See Zellweger Syndrome http://www.bdid.com/defectca.htm

HOME Ca-Cl C Syndrome (Opitz Trigonocephaly Syndrome) C SYNDROME Opitz Trigonocephaly Syndrome Family Network c syndrome C-II Anapolipoproteinemia See Hyperlipoproteinemia, Type Ib CADASIL See Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (Includes Photos) Cafe au lait spots syndrome CAFE-AU-LAIT SPOTS, MULTIPLE Caffey Disease (Infantile Cortical Hyperostosis) List of Sites Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) cahmr syndrome CAHMR SYNDROME Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis See CREST Syndrome Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) calderon gonzalez cantu syndrome HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION Calloso Genital Dysplasia calloso genital dysplasia Callus Disease Outpatient Clinics in France Calpainopathy See Muscular Dystrophy, Limb-Girdle Type, Type IIa Calvarial Hyperostosis calvarial hyperostosis CALVARIAL HYPEROSTOSIS Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS

37. Zellweger's Syndrome (www.whonamedit.com) Zellweger s syndrome. Synonyms cerebrohepatorenal syndrome, hepatocerebrorenalsyndrome, renohepatocerebral syndrome, CHR syndrome. Associated persons http://www.whonamedit.com/synd.cfm/1670.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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 recommendation: Hypography is an open community about science and all things related Zellweger's syndrome Synonyms: Cerebrohepatorenal syndrome, hepatocerebrorenal syndrome, renohepatocerebral syndrome, CHR syndrome. Associated persons: Hans Ulrich Zellweger Description: A rare hereditary disorder with onset in fetal life; prevalent in females. Feeble fetal activity; breech presentation prevalent. It is characterized by imperfect myelinisation of nerve tracts, microgyria, abnormal skull, mental and growth retardation, calcific deposits in long bones, craniofacial malformations, hypospadias, glaucoma, seizures, cataracts, cysts of the kidney, an enlarged liver, hyperbilirubineamia, extramedullary haemopoiesiss and hypotonia. Cardiac complications include patent ductus arteriosus and septal defects. The characteristic lesion is a lack or absence of perioxisomes in many tissues. Death within few weeks or months of life. Inheritance is autosomal recessive Bibliography: P. Bowen, C. S. N. Lee, H. U. Zellweger, R. Lindenburg:

38. Smith-Lemli-Opitz Syndrome I (David W. Smith) (www.whonamedit.com) Smith s syndrome Synonyms cerebrohepatorenal syndrome, genitopalato-cardialsyndrome, RSH syndrome, SLO syndrome. Associated persons Luc Lemli http://www.whonamedit.com/synd.cfm/1720.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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 recommendation: Hypography is an open community about science and all things related Smith-Lemli-Opitz syndrome I (David W. Smith) Also known as: Smith's syndrome Synonyms: Cerebrohepatorenal syndrome, genito-palato-cardial syndrome, RSH syndrome, SLO syndrome. Associated persons: Luc Lemli John Marius Opitz David Weyhe Smith Description: A syndrome of multiple abnormalities, comprising mental retardation, microcephaly, growth retardation, hypoplastic external genitalia and a characteristic facies with micrognathia and anteverted nostrils. Onset in fetal life; feeble fetal activity; at birth short stature. Cardiac, renal and vertebral abnormalities may be present. The eyes may show strabismuss, cataracts and ptosis.The condition is potentially lethal in infancy and survivors have severe mental retardation. Inheritance is autosomal recessive. Smith, Lemli, and Opitz in 1964 described the disease picture in three unrelated boys. The authors later termed the disease picture RHS syndrome from the initial letters of the family names of the described patients.

39. Delayed Development Cerebral Palsy; Cerebrocostomandibular Syndrome; cerebrohepatorenal syndrome;Cerebrovascular Accident; Chondrodysplasia Punctata Syndromes http://www.rogerknapp.com/medical/eci.htm

Delayed Development Evaluating children for proper development is sometimes difficult since there is such a wide variety in the rate of different children. Check with your doctor or compare your child with others of the same age. If you have concerns then you should call this Early Childhood Intervention (ECI) line and have your child evaluated. It can't hurt. Satisfy yourself that your child is in the normal range. ECI is paid by the government and can give your child therapy if they are behind the normal range of development or have disabilities. They serve up to age three. ECI services for children: Screenings and assessments, including hearing and vision. Physical, occupational, speech and language therapy. Activities to develop learning and eating skills. assistive technology. moving on to school or other services as needed at age 3 or when graduating from the program. nutritional services. supporting child care or preschool teachers of enrolled children. ECI services for families: education and counseling.

40. Zellweger's Syndrome - Wikipedia, The Free Encyclopedia former professor of Pediatrics and Genetics at the University of Iowa who didresearch into the disease, it is also called cerebrohepatorenal syndrome. http://en.wikipedia.org/wiki/Zellweger's_syndrome

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Zellweger's syndrome From Wikipedia, the free encyclopedia. Zellweger syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver kidneys , and brain . It is characterized by an individual's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in the gene. Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease, it is also called cerebrohepatorenal syndrome VL chain fatty acids are generally found in the central nervous system brain and spinal cord ) and the peroxisomes of these cells cannot import the necessary degrative proteins for B-oxidation to occur. Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain.

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