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
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
Zellweger Syndrome Zellweger Syndrome is a rare hereditary disorder affecting infants. Synonyms.Bowen Syndrome; cerebrohepatorenal syndrome http://www.bchealthguide.org/kbase/nord/nord363.htm
Extractions: 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. 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. The Arc (a national organization on mental retardation)
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
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 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
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
Extractions: 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.
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
Cerebrohepatorenal Syndrome - Talk Medical Humanfriendly medical definition of cerebrohepatorenal syndrome. http://www.talkmedical.com/medical-dictionary/2716/Cerebrohepatorenal-Syndrome
Extractions: Tell a friend 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.
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
Extractions: Tell a friend 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.
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
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)
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
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 Cerebrocostomandibular Syndrome. Cerebro costo mandibular syndrome CEREBROCOSTOMANDIBULAR SYNDROME. cerebrohepatorenal syndrome. See Zellweger 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
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
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: 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: ECI services for families: education and counseling.
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
Extractions: Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! 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 coveringâwhich acts as an insulatorâon nerve fibers in the brain.
