Birth Disorder Information Directory - M Ankylosing Spondylarthritis. Marinesco Sjogren Like syndrome (Juvenile Cataract with Cerebellar Atrophy, Myopathy and Mental Retardation) http://www.bdid.com/defectm.htm
Extractions: HOME Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) Macrencephaly Macrocephaly Macrodactyly/Megalodactyly Macroglossia Macrogyria Macular Dystrophy Macules Madelung's Deformity Majewski Syndrome Mal de Meleda Male Pseudohermaphroditism Due to Androgen Insensitivity Male Turner Syndrome Malignant Hyperthermia See Hyperthermia, Malignant
Birth Disorder Information Directory - J Arthritis List of Sites. Juvenile Cataract with Cerebellar Atrophy, Myopathy and Mental Retardation (Marinesco Sjogren Like syndrome) http://www.bdid.com/defectj.htm
Extractions: HOME Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) Jacobs Syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) Jadassohn Nevus Phakomatosis Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION
Extractions: Achondroplasia Osteogenesis-Imperfecta Acromegaly: Acromegaly Adrenal virilism syndrome Calcinosis-Metasticum Cutis-Verticis-Gyrata ... XXXXY-Syndrome Ankylosis Acanthosis Nigricans Dracunculosis Psoriasis-Arthropathica Werner-Syndrome Arachnodactily Marfan Syndrome Arm radio-ulnar synost Klinefelter-Syndrome Arms-legs-short Conradi-Syndrome Ellis-VanCrefeld-Syndrome Osteogenesis-Imperfecta Vinyl-Chloride-Disease Arms hypoplasia radius en fibula Seckel-Syndrome Arthralgia see also Arthritis Acne-fulminans Blastomycosis Cold-Urticaria ... Vasculitis-Cutanea Bird face prominent nose narrow Dysostosis-Mandibulofacialis Goltz-Syndrome Hallermann-Streiff-Syndr Rothmund-Thomson-Syndr ... Seckel-Syndrome Bone pain - macroglobuliemia Bones tall Marfan Syndrome Brachydactylie fingers short and stubby Mal de Meleda Nail-Patella-Syndrome Oro-Facial-Digital-syndromes Racket-Nail ... Conradi-Syndrome Tricho-Rhino-Phalangeal-Syndrom Brachycephaly boad skull Apert syndrome Campodactylia = bent fingers 3.4.5. Campodactylia-Hereditaria Strebodactylia Chest wall broad shield shaped Turner syndrome Clinodactylia curved 5th digit DOORsyndrome Seckel-Syndrome Dolichocephaly Marfan syndrome Dwarfism nanismus Brauer syndrome Cockayne-Syndrome Conradi-Syndrome Cornelia-DeLange-Syndrome ... Xeroderma-Pigmentosum Dyscephaly bird face Dysostosis-Mandibulofacialis Goltz-Syndrome Hallermann-Streiff-Syndrome Rothmund-Thomson-Syndrome ... Werner-Syndrome Face-forehead and hyperostosis frontalis Klinefelter-Syndrome Fractures bones deformities Albright syndrome,
Children Living With Inherited Mandibuloacral Dysplasia. Mannosidosis (Alpha). Mannosidosis (Beta). Maple Syrup Disease. MSD. Marfan syndrome. Marinesco Sjogren syndrome. MSS. Mastocytosis. http://www.climb.org.uk/Disorders/Mike.htm
Extractions: Search Our Site C hildren L iving with I nherited M eta b olic Diseases Metabolic Diseases 'M' The National Information and Advice Centre for Metabolic Diseases Disease Also Known as Madelungs Disease Magnesium-Losing kidney Maleyacetoacetate Isomerase Deficiency Malonic Aciduria Malonyl CoA Decarboxylase Deficiency Mandibuloacral Dysplasia Mannosidosis (Alpha) Mannosidosis (Beta) Maple Syrup Disease MSD Marfan Syndrome Marinesco Sjogren Syndrome MSS Mastocytosis Mast Cell Disease Utricaria Pigmentosa McCune Albright Syndrome Polyostotic Fibrous Dysplasia McKusick Kaufman Medium Chain 3 Ketoacyl CoA Thiolase Deficiency Medium Chain Acyl CoA Dehydrogenase Deficiency MCAD Melorheostosis Menkes Disease Metabolic Acidosis Membrane Inhibitor of Reactive Lysis MIRL Metachromatic Leukodystrophy - Adult Metachromatic Leukodystrophy - Infantile Metachromatic Leukodystrophy Juvenile Methemoglobinaemia Methionine Adenosyltransferase Deficiency Hypermethioninaemia S-Adenosylhomocysteine Hydrolase Deficiency Methionine Synthase Deficiency Methylacyl-CoA Racemase Deficiency (2) Methyl-Cobalamin Deficiency Methylcrotonyl CoA Carboxylase Deficiency (3) Methylcrotonyl Glycinuria (3) Methylene Tetrahydrofolate Reductase Deficiency Methylglutaconic Aciduria (3) Type 1 Methylglutaconic Aciduria (3) Type 2 Barth Syndrome Methylglutaconic Aciduria (3) Type 3 Methylglutaconic Aciduria (3) Type 4 Methylmalonic Acidaemia MMA Methylmalonic Acidaemia and Homocystinuria Cobalamin C Disease Cobalamin D Disease
A Listing Of Disorders Maple Syrup Urine Disease. Marden Walker syndrome. Marfan syndrome. Marinesco Sjogren syndrome. Maroteaux Lamy syndrome. Marshall Smith syndrome. Marshall syndrome. http://medschool.umaryland.edu/BTBank/Family/Disorders_M.htm
Extractions: University of Maryland, Baltimore M Macular Degeneration Macular Degeneration, Polymorphic Madelung's Disease Maffucci Syndrome Malignant Hyperthermia Mannosidosis Maple Syrup Urine Disease Marden Walker Syndrome Marfan Syndrome Marinesco Sjogren Syndrome Maroteaux Lamy Syndrome Marshall Smith Syndrome Marshall Syndrome MASA Syndrome Mastocytosis Maxillofacial Dysostosis Maxillonasal Dysplasia, Binder Type May Hegglin Anomaly McArdle Disease McCune Albright Syndrome McKusick Type Metaphyseal Chondrodysplasia Meckel Syndrome Medium Chain Acyl CoA Dehydrogenase Deficiency Medullary Cystic Disease Medullary Sponge Kidney Megalocornea Mental Retardation Syndrome Meige Syndrome MELAS Syndrome Meleda Disease Melkersson Rosenthal Syndrome Melnick Needles Syndrome Meniere Disease Meningioma Menkes Disease MERRF Syndrome Mesenteritis, Retractile Metatropic Dysplasia I Microcephaly Microvillus Inclusion Disease Mikulicz Syndrome Miller Syndrome Mitral Valve Prolapse Syndrome Mixed Connective Tissue Disease (MCTD) Moebius Syndrome Monilethrix Morquio Syndrome Motor Neuron Disease Moyamoya Disease Mucha Habermann Disease Mucolipidosis IV Mucopolysaccharidosis Mulibrey Nanism Syndrome (Perheentupa Syndrome) Mullerian Aplasia Multiple Sclerosis Multiple Sulfatase Deficiency Mulvihill Smith Syndrome MURCS Association Muscular Dystrophy, Becker
13 April 2003 malabsorbtion in three diseases, chylomicron retention disease (CMRD), Anderson Disease and CMRD with the neuromuscular disorder Marinesco Sjogren syndrome. http://www.mrc.ac.uk/index/public-interest/public-press_office/public-press_rele
Extractions: Press Office Press releases 2003 18 December 2003 11 December 2003 ... 23 April 2003 13 April 2003 10 April 2003 08 April 2003 07 April 2003 25 March 2003 ... Press releases 2003 : 13 April 2003 SCIENTISTS FIND GENE WHICH CONTROLS DIETARY FAT Published online today in Nature Genetics the work, funded by the Medical Research Council and the British Heart Foundation, report the genetic cause of severe fat malabsorbtion in three diseases, chylomicron retention disease (CMRD), Anderson Disease and CMRD with the neuromuscular disorder Marinesco Sjogren syndrome. END About MRC Public Interest Funding Current Research ... Search
BBC NEWS | Health | 'Fat Gene' Discovery fat malabsorption in three rare diseases, chylomicron retention disease (CMRD), Anderson Disease and CMRD with Marinesco Sjogren syndrome, a neuromuscular http://news.bbc.co.uk/2/hi/health/2946473.stm
Extractions: The discovery could help understand fat absorption Scientist have discovered a gene that makes people more likely to absorb fat. They were looking at why some people are more prone to diseases linked to excessive consumption of fat. But they say it may help understand how too much fat can lead to obesity, diabetes, high blood fat levels and heart attacks. It may and aid the development of new treatments. Mutations An international team of researchers looked at the genetic causes of severe fat malabsorption in three rare diseases, chylomicron retention disease (CMRD), Anderson Disease and CMRD with Marinesco Sjogren syndrome, a neuromuscular disorder. This opens up exciting new avenues for understanding of the origins of obesity Professor James Scott, Imperial College The genetic mutations in the three disorders mean that a protein called Sar1b, which is required for all dietary fat absorption, cannot work properly. Scientists from Imperial College London and the Hammersmith Hospital studied families from across the world and found all those affected by the three disorders had the same genetic mutation.
Extractions: The differential diagnosis of a progressive cerebellar syndrome includes vitamin E deficiency, lipoprotein disorders , neurocanthocytosis, Wilson disease MLD hexosaminidase deficiency , aminoacidurias including Hartnup disease , cerebrotendinous xanthomatosis, mitochondrial cytopathies, giant axonal neuropathy, hemochromatosis, adrenoleukodystrophy, Krabbe disease , Whipples disease, demyelinating disease, Behcets, progressive multifocal leukoencephalopathy, vasculitides, biotinidase deficiency, sphingomyelinase deficiency, neuroaxonal dystrophy, Hallevorden-Spatz, Marinesco Sjogren syndrome, Huntingtons disease, Creutzfeld-Jakob and GSS disease, inflammatory spinocerebellar degeneration, GAPN syndrome(antiMAG), thyroid disease, Chediak-Higashi , ataxia telangiectasia, superficial siderosis, heavy metal intoxications, drug (eg. Lithium and Dilantin) intoxication, nutritional, paraneoplastic and familial cerebellar degenerations (including Freidrichs, Joseph disease and other OPCAs including multiple system atrophy) and structural lesions including posterior fossa cysts, tumors, and vascular malformation; craniocervical junction anomalies, occasionally lesions in the frontal lobes or in the cervical spinal cord, and hydrocephalus.
Index - A To Z Âå¾Ç¹Ï®ÑÀ] - °ê»Ú«p¥Í°·±d¶é°Ï - 24Drs.com syndrome nord Marie Disease nord MarieSainton Disease nord Marijuana Anonymous World Services shc Marinesco Sjogren syndrome nord Marinesco-Garland http://www.24drs.com/Health_Guide/health.asp?who=4115.21640
Aniridia apparently not been reported previously, although cerebellar ataxia mental deficiency and congenital cataracts are known in the Marinesco Sjogren syndrome. http://ibis-birthdefects.org/start/aniridia.htm
Extractions: Shaw et al. (1960) ascertained 176 cases of aniridia in the lower Michigan peninsula ... mutation rate about 4 x 10(-6) per gamete per generation. Affected persons may be visually handicapped because of nystagmus, cataract or glaucoma ... Undoubtedly more than one "cause" of aniridia exists ... Gove et al. (1961) identified 77 cases of aniridia descended from an affected woman born in 1824 ... Delleman and Winkelman (1973) emphasized that atypical colobomata and slitlike defects of the iris stroma may be partial expressions of aniridia ... a fourth type associated with Wilms tumor, genital abnormalities, and deletion of 11p13 ( WAGR syndrome ) ...
NETSCAPE Nord Marijuana Anonymous World Services Drug Abuse Shc Marine Moms - Veterans / Military Shc Marinesco Sjogren syndrome Nord Marinesco-Garland http://webcenter.health.webmd.netscape.com/hw/index/index-all-M.asp
NORD Rare Disease - Medical Transcription At Medword Bipolar Mannosidosis Maple Syrup Urine Disease Marcus Gunn Phenomenon Marden Walker syndrome Marfan syndrome Marinesco Sjogren syndrome Maroteaux Lamy syndrome http://www.medword.com/rardisM.html
Extractions: This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list. Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note:
Canadian Directory Of Genetic Support Groups Marinesco Sjogren syndrome Support Group (Marinesco Sjogren syndromeMSS) Melnick-Needles syndrome Support Group (Melnick-Needles syndrome) MLD Foundation http://www.lhsc.on.ca/programs/medgenet/m_sup.htm
Extractions: Please click here to return to the main site map index. Shopping online for sjogren's syndrome or just looking for more information about sjogren's syndrome? Here at www.ishop.co.uk we aim to provide the most comprehensive resource of sites selling sjogren's syndrome and links to online resources such as search, information and price comparison tools that should quickly ensure you find sites containing information about sjogren's syndrome or directly selling sjogren's syndrome or releted products/services. Whilst we do not sell sjogren's syndrome directly the independent shopping and information links provided will ensure that you find the web sites that do sell sjogren's syndrome quickly, simply and at the best prices available ensuring you get the best deals online.
Approach To A Case Of Ataxia MSUD (Maple syrup urine disease); Marinesco Sjogren syndrome (ataxia + mental retardation + Bilateral cataracts + short stature); http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/approach_to_ataxia
Extractions: Consultant Neurologist Ataxia is a disorder of movement characterized by The pathology causing ataxia can be anywhere in the cerebellum, or its connections with other parts of the nervous system. Differentiation between cerebellar and sensory ataxia: Sensory Ataxia: Cerebellar Ataxia: Truncal Ataxia: The lesion is in the vermis of the cerebellum. The child has trouble keeping balance even while sitting and increases if asked to sit with legs crossed. This ataxia is better revealed on standing/running. The child has even more trouble keeping balance with eyes open. The gait is more lurching than seen in sensory ataxia (its almost staggering as seen in acute alcohol intoxication) and is more apparent when the patient is asked to turn quickly or hop on one foot. Titubation (to and fro bobbing of the head) may also be seen. The speech is usually slurred.
Extractions: Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates MAC MPS III MRKH Machado-Joseph Disease ... Replacements.com - M Manufacturers With Silver Patterns
Useful Links National Association for Parents of Children with Visual Impairments (NAPVI). http://www.spedex.com/napvi/links.html
Extractions: Organizations; Private and Government The National Agenda for the Education of Children and Youths with Visual Impairments, Including Those with Multiple Disabilities Hilton/Perkins Foundation Perkins School for the Blind Hadley School for the Blind ... Texas School for the Blind and Visually Impaired Parenting VI Guide a guide to Internet resources for parents and teachers of visually impaired children On-Line Braille Literacy Course sponsored by US Dept of Education. Parents encouraged, stipends available to help support students. National Parent Information Network A collection of re- sources for parents. Electronic version of pamphlets, brochures, digests, guides, and other materials. Topic examples are: child care (all ages), gifted children, older children, pre-teens, teens, and more.
