1. Pediatric DatabaseA Disorder Of Peroxisomes Characterized By The Congenital Abse "Conditions and Diseases" search on Copyright © 19982002 Netscape Terms of Use Last update 1058 PT, Monday, July 8, 2002 - edit http://www.icondata.com/health/pedbase/files/ZELLWEGE.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 12/27/94 ZELLWEGER'S SYNDROME DEFINITION: A disorder of peroxisomes characterized by the congenital absence of functioning peroxisomes resulting in a cerebrohepatorenal syndrome. EPIDEMIOLOGY: incidence: rare age of onset: newborn risk factors: familial - autosomal recessive chrom. #: 7q11.23 gene: ? M = F PATHOGENESIS: 1. Group 1 Peroxisomal Disorders thought to be a group of disorders of peroxisome biogenesis where the primary defect involves the import mechanisms of matrix enzymes the peroxisomes in these disorders are not entirely absent but consist of empty membrane "ghosts" (these membranes contain the 3 integral membrane proteins specific to peroxisomes) this results in abnormalities of peroxisomal function secondary to the failure of multiple peroxisomal enzymes: 1. Anabolic Dysfunction decreased plasmalogen increased bile acid intermediates 2. Catabolic Dysfunction increased catalase (in the cytosol) increased VLCFA increased phytanic acid increased L-pipecolic acid 2. History

2. Cerebrohepatorenal Syndrome cerebrohepatorenal syndrome,, Print this article, see Zellwegers syndromeCNS manifestation FS The Encyclopaedia of Medical Imaging Volume VI1, http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/CEREBROHEPATORENAL SYND

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Cerebrohepatorenal syndrome, see Zellwegers syndrome CNS manifestation FS The Encyclopaedia of Medical Imaging Volume VI:1 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

3. Cerebrohepatorenal Syndrome only. cerebrohepatorenal syndrome,, Print this article, see Zellwegerssyndrome HC The Encyclopaedia of Medical Imaging Volume VII, http://www.amershamhealth.com/medcyclopaedia/Volume VII/CEREBROHEPATORENAL SYNDR

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Cerebrohepatorenal syndrome, see Zellwegers syndrome HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

4. Cerebrohepatorenal Syndrome - General Practice Notebook medical information from General Practice Notebook. cerebrohepatorenal syndrome.Zellweger syndrome is also called cerebrohepatorenal syndrome. 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...

5. Zellweger Syndrome - General Practice Notebook medical information from General Practice Notebook. Zellweger syndrome.Zellweger syndrome is also called cerebrohepatorenal syndrome. http://www.gpnotebook.co.uk/cache/630849570.htm

Zellweger 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...

6. Zellweger Syndrome Other names for Zellweger Syndrome Bowen Syndrome; cerebrohepatorenal syndrome. Cerebrohepatorenalsyndrome Philippe Jeanty, MD, PhD Sandra R Silva, MD. http://tbase.jax.org/docs/Pex5.html

Current Feature in TBASE by Anna V. Anagnostopoulos OCTOBER 2001 The Knockout: A Mouse Model for Zellweger Syndrome Other names for PEX5 peroxisome receptor 1; PTS1R Other names for Zellweger Syndrome Bowen Syndrome; Cerebrohepatorenal Syndrome October 2001 features a knockout mouse model for the human Zellweger syndrome , a congenital autosomal recessive peroxisomal disorder whose clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties as well as migration deficits of the neocortex and degeneration of white matter tracts. Original characterization of knockout mice, deficient in peroxisome receptor 1 (peroxin 5), has shown that -null mice display a severe peroxisomal import defect, lack functional peroxisomes and show all the known pathological defects and biochemical aberrations of Zellweger patients ( Baes et al TBASE:4526 TBASE:4527 ). In addition, -null hepatocytes exhibit marked alterations in mitochondrial ultrastructure reminiscent of those observed in human patients. In a follow-up study, Baumgart et al.

7. HONselect - Zellweger Syndrome Translate this page English Zellweger Syndrome, - cerebrohepatorenal syndrome - Zellweger-Like Syndrome- Cerebro-Hepato-Renal Syndrome - Zellweger Disease - Zellweger's Syndrome http://www.hon.ch/HONselect/RareDiseases/C06.552.970.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Zellweger Syndrome - Cerebrohepatorenal Syndrome - Zellweger-Like Syndrome - Cerebro-Hepato-Renal Syndrome - Zellweger Disease - Zellweger's Syndrome - Cerebro Hepato Renal Syndrome Français: ZELLWEGER, SYNDROME - CEREBROHEPATORENAL, SYNDROME - SYNDROME CEREBROHEPATORENAL - SYNDROME ZELLWEGER Deutsch: Zellweger-Syndrom - Zellweger-Like-Syndrom - Zerebro-hepato-renales Syndrom - CHR-Syndrom Español: SINDROME DE ZELLWEGER - SINDROME CEREBROHEPATORRENAL - SINDROME SIMILAR A ZELLWEGER Português: SINDROME DE ZELLWEGER - SINDROME HEPATO-RENAL-CEREBRAL - SINDROME ZELLWEGER-SEMELHANTE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C06.552.970.html Last modified: Thu Jul 25 2002

8. ORPHANET® : Zellweger Syndrome Translate this page ORPHANET. ORPHANET database access. Zellweger syndrome. Directaccess to details Alias cerebrohepatorenal syndrome. Home Page. http://www.orpha.net/static/GB/zellweger.html

ORPHANET database access Zellweger syndrome Direct access to details Alias : Home Page

9. GASNet Anesthesiology: Contents A - C Bowen. Bowen Syndrome (cerebrohepatorenal syndrome). Bullae. Cerebrohepatorenal.Bowen Syndrome (cerebrohepatorenal syndrome). Cerebrohepatorenal. http://gasnet.med.yale.edu/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

10. GASNet Anesthesiology: Contents S - Z X0. Turner's Syndrome. XXY. Klinefelter's Syndrome (XXY). Zellweger. Zellweger Syndrome(cerebrohepatorenal syndrome). © 1994 2002, GASNet. All rights reserved. http://gasnet.med.yale.edu/pediatric-syndromes/s2z_br.php

Contents S - Z - pediatric syndromes - Sachs Tay - Sachs Disease Saethre Saetre - Chotzen Syndrome Sanfilippo Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Scheie Scheie Disease (Mucopolysaccharidosis Type V) Schönberg Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Schönlein Henoch - Schönlein Purpura Schuller Hand - Schuller - Christian Disease (Histiocytosis X) Schwartz Schwartz - Jampel Syndrome Scleroderma Scleroderma Senior Senior - Loken Syndrome Seip Seip - Lawrence Syndrome Sheldon Freeman - Sheldon Syndrome (Whistling Face Syndrome) Shone Shone Syndrome Shy Shy - Drager Syndrome Siemens Christ - Siemens - Touraine Syndrome (Anhydrotic Ectodermal Dysplasia) Silver Russell - Silver Syndrome Sipple Sipple's Syndrome (MEN - type II) Siwe Letterer - Siwe Disease (Acute Disseminated Histiocytosis) Smith Smith - Lemli - Opitz Syndrome Sotos Sotos's Syndrome (Cerebral Gigantism) Spatz Hallervorden - Spatz Disease Stevens Erythema Multiforme Major (Stevens - Johnson Syndrome) Steinert Myotonic Dystrophy (Steinert's Disease) Stickler Stickler Syndrome Still Still's Disease Strandberg Groenblad - Strandberg Syndrome (Pseudoxanthoma Elasticum) Streiff Hallerman - Streiff Syndrome Sturge Sturge - Weber Syndrome Sulzberger Bloch - Sulzberger Syndrome Sydenham Sydenham's Chorea System Lupus Erythematous System Lupus Erythematous Tangier Tangier Disease (Analphalipoproteinemia) TAR TAR Syndrome (Thrombocytopenia and Absent Radius) Tauri Tauri Disease (Glygogen Storage Disease Type VII) Tay Tay - Sachs Disease Taybi Rubenstein - Taybi Syndrome Telangiectasia

11. Health Library - Zellweger Syndrome this report. Synonyms. Bowen Syndrome; cerebrohepatorenal syndrome.Disorder Subdivisions. None. General Discussion. Zellweger Syndrome http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

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

Home List categories Eponyms A-Z Biographies by country ... Contact 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: A familial syndrome of multiple congenital defects.

13. Smith-Lemli-Opitz Syndrome I (David W. Smith) (www.whonamedit.com) Also known as Smith's syndrome Synonyms cerebrohepatorenal syndrome,genitopalato-cardial syndrome, RSH syndrome, SLO syndrome. http://www.whonamedit.com/synd.cfm/1720.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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. Bibliography: D. W. Smith, L. Lemli, J. M. Opitz:

14. Rare Disease Support Community Congenital, bilateral) Celiac Disease Cerebellar Ataxia Cerebral Aneurysm CerebroCosto-MandibularSyndrome cerebrohepatorenal syndrome Chagas Disease Chanarin http://www.angelfire.com/on2/egroups/C

C C Syndrome Camptomelic Syndrome Candidiasis Carbohydrate Deficient Glycoprotein Syndrome (Type I) ... RETURN HOME

15. Hepatomegaly From OMIM 214100 cerebrohepatorenal syndrome CHR SYNDROME; ZELLWEGER SYNDROME;ZS; ZWS; ZWS1 12. *214110 cerebrohepatorenal syndrome, VARIANT http://acadprojwww.wlu.edu/vol4/BlackmerH/public_html/xliberty/biology/hepatomeg

16. Select Entries From OMIM -- Online Mendelian Inheritance In Man DUCT, AND PREMATURE AGING *249000 MECKEL SYNDROME, TYPE 1; MKS1 106200 ANIRIDIA;AN1 *214110 cerebrohepatorenal syndrome, VARIANT TYPES *170995 ATPBINDING http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/congen_cataract.htm

Select Entries from OMIM Online Mendelian Inheritance in Man Back to Senses Abnormalities 109 entries found, searching for "congenital cataracts" CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS HYPERFERRITINEMIA-CATARACT SYNDROME CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT CATARACT, CONGENITAL OR JUVENILE OCULOFACIOCARDIODENTAL SYNDROME PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 LACTOSE INTOLERANCE, CONGENITAL GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD DYSTROPHIA MYOTONICA COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS MICROPHTHALMIA-CATARACT CATARACT, TOTAL CONGENITAL; CC

17. Select Entries From OMIM -- Online Mendelian Inheritance In Man CANCER 2, EARLYONSET; BRCA2 *603775 CYCLIN E2; CCNE2 *604358 STROMAL ANTIGEN 1;STAG1 *214110 cerebrohepatorenal syndrome, VARIANT TYPES *170993 PEROXISOMAL http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/endocrine/thymus.htm

Select Entries from OMIM Online Mendelian Inheritance in Man 217 entries found, searching for "thymus" DIGEORGE SYNDROME; DGS IMMUNE DEFECT DUE TO ABSENCE OF THYMUS SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 17; SCYA17 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 25; SCYA25 ALKALINE PHOSPHATASE, PLACENTAL-LIKE 2; ALPPL2 TL ANTIGEN DIABETES MELLITUS, INSULIN-DEPENDENT, 2 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1 VANIN 1; VNN1 ATAXIA-TELANGIECTASIA; AT PROTHYMOSIN, ALPHA; PTMA CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 ZINC FINGER PROTEIN, SUBFAMILY 1A, 1; ZNFN1A1 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3 LYMPHOPROLIFERATIVE SYNDROME RETICULAR DYSGENESIA G PROTEIN-COUPLED RECEPTOR 65; GPR65 HYPOPARATHYROIDISM SOLUTE CARRIER FAMILY 7, MEMBER 5; SLC7A5

18. MEDLINEplus Medical Encyclopedia: Congenital Cataract HallermanStreiff syndrome; cerebrohepatorenal syndrome (Lowe's syndrome); Trisomy13; Conradi syndrome; Ectodermal dysplasia syndrome; Marinesco-Sjogren syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Congenital cataract Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Eye Cataract - close-up of the eye Rubella Syndrome Cataract Alternative names Return to top Cataract - congenital Definition Return to top A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Causes, incidence, and risk factors Return to top Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome Symptoms Return to top Opacity of the lens, often evident at birth without special viewing equipment and appearing as a whitish discoloration in an otherwise normally dark pupil.

19. NORD - National Organization For Rare Disorders, Inc. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright 1987, 1990,1998 Synonyms of Zellweger Syndrome Bowen Syndrome; cerebrohepatorenal syndrome. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Zellweger Syn

20. Delayed Development Dysplasia; Cerebral Giqantism; Cerebral Palsy; CerebrocostomandibularSyndrome; cerebrohepatorenal syndrome; Cerebrovascular Accident; http://www.rogerknapp.com/knap/eci.htm

roger knapp .com Established since 1997 Email a Serviceman Opinion 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.

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