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
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
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
Extractions: 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.
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
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
Extractions: 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
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
Extractions: HOME 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 See Dyskeratosis Congenita, Syndrome/X-Linked
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
Extractions: HOME 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) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
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
Extractions: 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.
The GAPS INDEX Zellweger Syndrome,Bowen Syndrome,Zellweger Syndrome,cerebrohepatorenal syndrome,Bowen Syndrome,cerebrohepatorenal syndrome. Zellweger http://www.icomm.ca/geneinfo/zellweger.htm
Extractions: 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
Extractions: WWW Medical.WebEnds.com 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)
Malattie Rare E Genetiche Lettera "Z" Translate this page SINDROME DISindrome cerebro-epato-renaleZellweger Sindrome diZellweger SyndromeBowen Syndrome/cerebrohepatorenal syndromeZellweger, syndrome de http://fmfpc.altervista.org/Z.htm
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: developmental glaucoma, open angle, closed angle, vision loss, visual deficit 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: 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)
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
Extractions: 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 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.
Extractions: 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 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
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