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         Cerebrohepatorenal Syndrome:     more detail

21. Entrez PubMed
Diagnosis of Zellweger s cerebrohepatorenal syndrome Article in Dutch Schutgens RB, Heymans HS, Purvis R, Wanders RJ, Schrakamp G, van den Bosch H. The
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6

22. ORPHANET - Rare Diseases - Orphan Drugs
Order the Orphanet book, Printing version, DISEASE Zellweger syndrome, Synonym(s) cerebrohepatorenal syndrome, ICD Q87.8, No description is available, MIM 214100,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=912

23. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
syndrome Cerebro costo mandibular syndrome Cerebro facio articular syndrome Cerebro facio thoracic dysplasia cerebrohepatorenal syndrome Cerebro oculo dento
http://www.orpha.net/Pat/GBC.html
List of diseases starting by C
Cacchi-Ricci disease

CACH syndrome

CADASIL

Cafe au lait spots syndrome
...
Czeizel syndrome

24. Disease Directory : Genetic Disorders : Zellweger Syndrome
Other names for Zellweger Syndrome Bowen Syndrome; cerebrohepatorenal syndrome. Zellweger s syndrome Synonyms Cerebrohepatorenal patients.
http://www.diseasedirectory.net/Genetic_Disorders/Zellweger_Syndrome/default.asp
Wednesday, June 02, 2004 Genetic Disorders
Aarskog Syndrome

Aase Syndrome

Ablepharon-Macrostomia Syndrome
... Genetic Disorders : Zellweger Syndrome
  • Conditions and Diseases - Zellweger Syndrome Top Links - Zellweger Syndrome Web Site Links. Zellweger Syndrome - Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke. Fanconi-Albertini-Zellweger syndrome (www.whonamedit.com) - Fanconi-Albertini-Zellweger syndrome: A syndrome of congenital heart defect, osteoporosis with spontaneous fractures , curving of the long bones, growth Health Library - Zellweger Syndrome - Zellweger Syndrome. Synonyms Disorder Subdivisions General Discussion Resources Zellweger Syndrome is a rare hereditary disorder affecting infants. Hunter's Hope: Zellweger Syndrome - Donate Now, Zellweger Syndrome. Zellweger There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections Justin Comeau - A personal page about a little boy who has Zellweger syndrome. Offers family pictures, information about the disease and the personal story of Justin. MCW Healthlink - An article about Zellweger syndrome, explaining what it is, the symptoms and prognosis.

25. Disease Directory : Zellweger Syndrome
cerebrohepatorenal syndrome; ZellwegerLike Syndrome; Cerebro-Hepato-Renal Syndrome Date Added 2/17/2004 95613 AM URL http//medical.webends.com/kw
http://www.diseasedirectory.net/detailed/25851.aspx
Wednesday, June 02, 2004 Genetic Disorders
Aarskog Syndrome

Aase Syndrome

Ablepharon-Macrostomia Syndrome
... Zellweger Syndrome : Zellweger Syndrome
Directory Listing
Title: Zellweger Syndrome
Description: Google, WWW Medical.WebEnds.com. Zellweger Syndrome. Cerebrohepatorenal Syndrome; Zellweger-Like Syndrome; Cerebro-Hepato-Renal Syndrome
Date Added: 2/17/2004 9:56:13 AM
URL: http://medical.webends.com/kw/Zellweger+Syndrome

26. GASNet Anesthesiology: Contents A - C
Bowen. Bowen Syndrome (cerebrohepatorenal syndrome). Bullae. Cerebrohepatorenal. Bowen Syndrome (cerebrohepatorenal syndrome). Cerebrohepatorenal.
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

27. GASNet Anesthesiology: Contents S - Z
X0. Turner s Syndrome. XXY. Klinefelter s Syndrome (XXY). Zellweger. Zellweger Syndrome (cerebrohepatorenal syndrome). © 1994 2004, GASNet. All rights reserved.
http://www.gasnet.org/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

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

HOME
Z
Zadik Barak Levin Syndrome (Hypothyroidism Dermoid Cyst Cleft Palate) ZAP70 Deficiency Zazam Sheriff Phillips Syndrome (Aniridia with Lens Luxation and Mental Retardation) Zellweger('s) Syndrome (Cerebrohepatorenal Syndrome) Zerres Rietschel Majewski Syndrome (Microcephaly with Syndactyly and Brachymesophalangy) Zeta-Associated-Protein (ZAP) 70 Deficiency Zimmer Phocomelia (Amelia, X Linked) Zimmer Taub Sova Syndrome (Tetraamelia Multiple Malformations) Zimmerman Laband Syndrome (Fibromatosis Gingival Hepatosplenomegaly Other Anomalies, Laband Syndrome) Zinsser Cole Engman Syndrome

29. Birth Disorder Information Directory - CA-CL
cerebrohepatorenal syndrome See Zellweger Syndrome. Cerebroocular Dysgenesis See Walker Warburg Syndrome. Cerebroocular DysplasiaMuscular Dystrophy Syndrome
http://www.bdid.com/defectca.htm

HOME
Ca-Cl
C Syndrome (Opitz Trigonocephaly Syndrome) C-II Anapolipoproteinemia CADASIL Caffey Disease (Infantile Cortical Hyperostosis) Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) Calloso Genital Dysplasia Callus Disease Calpainopathy Calvarial Hyperostosis Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis)

30. Zellweger Syndrome
Other names for Zellweger Syndrome Bowen Syndrome; cerebrohepatorenal syndrome. cerebrohepatorenal syndrome 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.

31. The GAPS INDEX
Zellweger Syndrome,Bowen Syndrome,Zellweger Syndrome,cerebrohepatorenal syndrome,Bowen Syndrome,cerebrohepatorenal syndrome. Zellweger
http://www.icomm.ca/geneinfo/zellweger.htm
Zellweger Syndrome,Bowen Syndrome,Zellweger Syndrome,Cerebrohepatorenal Syndrome,Bowen Syndrome,Cerebrohepatorenal Syndrome
For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
to Information on the Internet about Genetic Disorders and Birth Defects

Genetic Information and Patient Services, Inc. (GAPS)
HOME
DISORDERS GLOSSARY Zellweger Syndrome
(as defined by the
National Organization for Rare Disorders

also known as:
Bowen Syndrome
Cerebrohepatorenal Syndrome
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. (as defined at
http://www.ninds.nih.gov/health_and_medical/disorders/zellwege_doc.htm
NINDS Zellweger Syndrome Information Page
Reviewed 12-10-2001 Table of Contents (click to jump to sections) What is Zellweger Syndrome?

32. Zellweger Syndrome
cerebrohepatorenal syndrome; ZellwegerLike Syndrome; Cerebro-Hepato-Renal Syndrome; 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)
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33. Malattie Rare E Genetiche Lettera "Z"
Translate this page SINDROME DISindrome cerebro-epato-renaleZellweger Sindrome di•Zellweger SyndromeBowen Syndrome/cerebrohepatorenal syndrome•Zellweger, syndrome de
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A B C D ... Y - Z - Anomalie Cromosomiche
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Z
Zadik Barak Levin Sindrome di
Zadik barak levin syndrome de[Hypothyroidie kystes dermoides epibulaires fente palatine] Zambusch, Enfermedad de[Morphea Guttata, Tipo Plano/Von Zambusch, Enfermedad de/Liquen de Wilson/Liquen Ruber Plano/Liquen Plano Atrófico Escleroso/White Spot, Enfermedad de] ZAP70 Deficit di ... ZELLWEGER SINDROME DI [Sindrome cerebro-epato-renale] Zellweger Sindrome di Zellweger Syndrome[Bowen Syndrome/Cerebrohepatorenal Syndrome] Zellweger, syndrome de[Cérébro-hépato-rénal, syndrome]

34. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/C
Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (2); Cervical Cancer@ (19); Cervical Dysplasia
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/C
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35. EMedicine - Glaucoma, Secondary Congenital : Article Excerpt By: Inci Irak, MD
HallermannStreiff syndrome. cerebrohepatorenal syndrome (Zellweger) syndrome. Stickler syndrome. Trisomy syndromes (Down syndrome, Trisomy D, Edwards syndrome).
http://www.emedicine.com/oph/byname/glaucoma-secondary-congenital.htm
(advertisement)
Excerpt from Glaucoma, Secondary Congenital
Synonyms, Key Words, and Related Terms: developmental glaucoma, open angle, closed angle, vision loss, visual deficit
Please click here to view the full topic text: Glaucoma, Secondary Congenital
Background: This article discusses developmental glaucomas with associated ocular or systemic anomalies and the most identifiable causes. Aniridia and Peters Anomaly are covered in other articles. Glaucoma associated with congenital ocular abnormalities include the following:
  • Aniridia
  • Hypoplasia/hyperplasia of iris
  • Axenfeld-Rieger syndrome
  • Peters anomaly
  • Congenital ectropion uvea
  • Congenital corneal staphyloma
  • Cornea plana
  • Iridoschisis
  • Megalocornea
  • Microcornea
  • Microphthalmos
  • Morning glory syndrome
  • Persistent hyperplastic primary vitreous
Glaucomas associated with systemic congenital abnormalities include the following:
  • Weil-Marchesani syndrome
  • Glaucoma in phakomatosis
  • Oculocerebrorenal (Lowe) syndrome
  • Hallermann-Streiff syndrome
  • Cerebrohepatorenal syndrome (Zellweger) syndrome
  • Stickler syndrome
  • Trisomy syndromes (Down syndrome, Trisomy D, Edwards syndrome)

36. NEJM -- Table Of Contents (February 14 1985, 312 [7])
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome. Reporting the failure of medical devices. Note This page was generated from the Medline data base.
http://content.nejm.org/content/vol312/issue7/index.shtml

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Controlled clinical trial of peritoneal lavage for the treatment of severe acute pancreatitis
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37. 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

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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.
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.

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

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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.
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:

39. PharmGKB: Zellweger Syndrome
Renal Syndrome; CerebroHepato-Renal Syndrome; Cerebro-Hepato-Renal Syndromes; cerebrohepatorenal syndrome; cerebrohepatorenal syndromes; Diseases, Zellweger
http://www.pharmgkb.org/do/serve?objId=PA446115&objCls=Disease

40. HealthCentral - General Encyclopedia - Congenital Cataract
PierreRobin syndrome; hereditary congenital cataracts; Hallerman-Streiff syndrome; cerebrohepatorenal syndrome; Trisomy 13; Conradi
http://www.healthcentral.com/mhc/top/001615.cfm
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