1. The Contact A Family Directory - SILVER-RUSSELL SYNDROME A definition of Silver Russell syndrome, its inheritance patterns, and pre-natal diagnosing. Also Category Health Conditions and Diseases Russell Silver Syndrome......printer friendly, silverrussell syndrome, http://www.cafamily.org.uk/Direct/s30.html

printer friendly SILVER-RUSSELL SYNDROME home more about us in your area conditions information ... how you can help search this site Silver-Russell: asymmetry dwarfism: Russell-Silver: Silver's Intra-uterine growth retardation without dysmorphic features is also covered by the group. Inheritance patterns This is not yet fully determined. It has been suggested that while most cases are sporadic, some cases may be X-linked or autosomal dominant. However there is a congenital association between siblings which may result from placental insufficiency. Such placental problems may be hereditary. Pre-natal diagnosis There is no biochemical diagnosis but serial ultrasound assessments starting from early pregnancy will confirm intra-uterine growth retardation Medical text last updated October 2001 by Dr R Stanhope, Consultant Paediatric Endocrinologist, Great Ormond Street Hospital, London, UK. Further Online Resources Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our

2. Russel-Silver Syndrome Survey a list of physical signs and symptoms of this genetic disorder. Research treatment options and the longterm effects of the disease. Russell-Silver Syndrome (RSS) is also known as silver-russell syndrome, Silver Syndrome, and Russell Syndrome. http://www.magicfoundation.org/rss.html

Division Consultant Cathy Walbridge MAGIC Home To Print This Page The MAGIC Foundation for Children's Growth Chicago, Illinois Established in 1989 Russell-Silver Syndrome In 1953 and 1954, respectively, Dr. H. K. Silver and Dr. A. Russell independently described a special group of IUGR (Intrauterine Growth Retardation) children with short stature along with a small triangular face, low-set ears, incurved fifth fingers, and other characteristics. Their independent and varied findings were eventually determined to be a variation of the same syndrome. (A syndrome is a group of physical signs and symptoms which make up a specific disease or disorder.) As a result, the syndrome received its name. Russell-Silver Syndrome (RSS) is also known as Silver-Russell Syndrome, Silver Syndrome, and Russell Syndrome. One of the interesting and at the same time unsettling aspects of this syndrome is the very wide variation of its characteristics. Some individuals with RSS have many of the documented traits, while others have very few. Mental retardation is not characteristic of this disorder. Almost, without exception, every RSS individual has:

3. MAGIC FOUNDATION the same disorder that we now call RussellSilver Syndrome RSS in the U.S. and silver-russell syndrome SRS in Europe. http://www.magicfoundation.org/divisions/rss.htm

INTRODUCTION PDF Brochure INTRODUCTION In 1953 and 1954, Drs. Silver and Russell independently described groups of small-for-gestational-age [SGA] children whose pregnancies had been complicated by intrauterine growth retardation [IUGR]. Their common findings were short stature without catch-up growth, normal head size for age, a distinctive triangular face, low-set ears and incurving fifth fingers. These two groups of patients are now considered to have had variations of the same disorder that we now call Russell-Silver Syndrome [RSS] in the U.S. and Silver-Russell Syndrome [SRS] in Europe. One interesting and important aspect of the Russell-Silver syndrome is its variation in phenotype. In this context, a phenotype is all the physical characteristics and abnormalities found in an individual patient that are attributed specifically to RSS. Some individuals with RSS have many traits, thus a severe phenotype, while others have very few traits, thus a mild phenotype. When first described, RSS was NOT thought to be a genetic disorder because it recurred within families rarely, and when it did recur, its pattern of transmission failed to follow a consistent genetic mode of inheritance. More recent understandings of genetic mechanisms have led scientists to conclude that RSS is genetic, but its genetics are not simple. Scientists now believe that the RSS phenotype is associated with more than one genotype.

4. Syndrome De Silver-Russell Syndrome de SilverRussell Auteur Docteur Annick Toutain Editeur scientifique Professeur Didier Lacombe Date de creation mars 1999 Date de mise à jour janvier 2002 Nom de la maladie et ses synonymes http://orphanet.infobiogen.fr/data/patho/FR/fr-silver.html

Syndrome de Silver-Russell Auteur: Docteur Annick Toutain Editeur scientifique : Professeur Didier Lacombe Date de creation : mars 1999 Nom de la maladie et ses synonymes Syndrome de Silver-Russell ; Syndrome de Russell-Silver ; Syndrome de Silver Incidence Description clinique - Insuffisance staturale - Dysmorphie craniofaciale - Membres et squelette - Autres signes habituels - Signes occasionnels Mode de prise en charge Etiologie patients ayant des signes de syndrome de Silver-Russell, - syndrome 3M, nanisme de Mulibrey. Angehrn V., Zachmann M., Prader A. Silver-Russell syndrome. Observations in 20 patients. Helv Paediatr Acta 1979, 34: 297-308. Eggermann T., Wollmann H.A., Kuner R., Eggermann K., Enders H., Kaiser P., Ranke M.B. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 1997, 100: 415-9. Escobar V., Gleiser S., Weaver D.D. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clin Genet 1978, 13: 278-88. Hannula K., Kere J., Pirinen S., Holmberg C., Lipsanen-Nyman M. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001, 38: 273-8. Lai K.Y.C., Skuse D., Stanhope R., Hindmarsh P. Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child 1994, 71: 490-6.

5. The Contact A Family Directory - Index S Cell Anaemia see Sickle Cell Disorders Sickle Cell Disorders Sick New Born Babiessee Prematurity and sick newborn silverrussell syndrome Silver's Syndrome http://www.cafamily.org.uk/Idx/s.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. SCAD see Fatty Acid Oxidation Disorders SCID see Primary Immunodeficiencies SED see Restricted Growth SIDS see Cot Death SLE see Lupus SMA see Spinal Muscular Atrophy SOD see Septo-Optic Dysplasia SSPE see Subacute-Sclerosing Panencephalitis S-adenosylhomocysteine hydolase deficiency see Saccade Initiation Failure see Congenital Ocular Motor Apraxia Sacral Agenesis Saethre-Chotzen see Craniofacial Conditions Sagital Craniosynostosis see Craniofacial Conditions Salaam attacks see West Syndrome Sandhoff's Disease see Metabolic Diseases Sanfilippo see Mucopolysaccharide Diseases and associated diseases Santavuori Disease see Batten Disease Santavuori-Haltia Disease (infantile) see Batten Disease Sarcoidosis see Lung Diseases Scapulohumeral Dystrophy see Muscular Dystrophy and neuromuscular disorders Scapuloperoneal Dystrophy see Muscular Dystrophy and neuromuscular disorders Schilder's Disease see Adrenoleukodystrophy Scheie see Mucopolysaccharide Diseases and associated diseases Scheurmanns Disease see Perthes Disease Schilder's Disease see

6. EMedicine - Silver-Russell Syndrome : Article By Ainu Prakash-Cheng, MD, PhD silverrussell syndrome. Last Updated February 14, 2002, FULL DISCLAIMER.silver-russell syndrome excerpt. © Copyright 2003, eMedicine.com, Inc. http://www.emedicine.com/PED/topic2099.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Silver-Russell Syndrome Last Updated: February 14, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ainu Prakash-Cheng, MD, PhD , Assistant Professor of Human Genetics and Pediatrics, Department of Human Genetics, Mount Sinai School of Medicine Coauthor(s): Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Ainu Prakash-Cheng, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American Society of Gene Therapy , and American Society of Human Genetics Editor(s): Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia;

7. EMedicine - Silver-Russell Syndrome : Article Excerpt By: Ainu Prakash-Cheng, MD Excerpt from silverrussell syndrome. Synonyms, Key syndrome. Please clickhere to view the full topic text silver-russell syndrome. Background http://www.emedicine.com/ped/byname/silver-russell-syndrome.htm

(advertisement) Excerpt from Silver-Russell Syndrome Synonyms, Key Words, and Related Terms: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome Please click here to view the full topic text: Silver-Russell Syndrome Background: Silver-Russell syndrome (SRS) originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in 1954. The first reports were of children with characteristic facies, low birthweight, asymmetry, and growth retardation. Over the past several years, more than 400 patients have been described, with phenotypes ranging from mild to classic. Some patients have maternal uniparental disomy of chromosome 7, with the possibility of imprinting (eg, inheriting 2 copies of maternal chromosome 7, with no paternal contribution). Pathophysiology: Growth failure is the primary abnormality. Patients present with intrauterine growth retardation, difficulty feeding, failure to thrive, or postnatal growth retardation that may be caused by immature osseous development through early childhood. Although catch-up growth often occurs during adolescence, the final height still is less than normal ( -3.6 SD). Older children and adults do not manifest clinical features as clearly as infants or young children.

8. Silver-Russell Syndrome (Alexander Russell) (www.whonamedit.com) silverrussell syndrome (Alexander Russell) Also known as Russelldwarf Russell nanism Russell syndrome Russell-Silver syndrome http://www.whonamedit.com/synd.cfm/2892.html

Home List categories Eponyms A-Z Biographies by country ... Contact Silver-Russell syndrome (Alexander Russell) Also known as: Russell dwarf Russell nanism Russell syndrome Russell-Silver syndrome Silver's syndrome Synonyms: Asymmetry-dwarfism syndrome. Associated persons: Alexander Russell Henry K. Silver Description: A syndrome of intra-uterine dwarfism with low birth weight characterized by short stature, skeletal asymmetry, relatively large skull with triangular shaped head, small incurved little fingers, characteristic facies, precocious sexual development. Renal and/or ureteral defects and mental retardation may occur in some cases. Café au lait macules are present in nearly half the cases. Nephroblastoma can be a complication. No sex preponderance. The mode of inheritance is unknown. Some authors separate the Russell and Silver syndromes as independent entities, the Russell syndrome being a similar disturbance, but not asymmetric. However, Russell's and Silver's are now considered the same entity. An affected individual is known as the Russell dwarf. Bibliography: H. K. Silver, W. Kiyasy, J. George, W. C. Deamer:

9. Alexander Russell (www.whonamedit.com) silverrussell syndrome (Alexander Russell) A syndrome of intra-uterine dwarfismwith characterized by short stature, skeletal asymmetry, triangular shaped http://www.whonamedit.com/doctor.cfm/2458.html

Home List categories Eponyms A-Z Biographies by country ... Contact Alexander Russell English paediatrician, born 1914, Newcastle. Associated eponyms: Russell's syndrome II (Alexander Russell) A diencephalic syndrome of infancy marked by progressive emaciation in spite of normal or increased food intake, tremor, ataxia, etc. Russell's syndrome III (Alexander Russell) An inborn enzymatic defect in biosynthesis of urea. Silver-Russell syndrome (Alexander Russell) A syndrome of intra-uterine dwarfism with characterized by short stature, skeletal asymmetry, triangular shaped head and other anomalies. Biography: Alexander Russell studied medicine at the University of Durham where he was influenced by the innovative paediatrician, J. M. Spence. He qualified at the age of 21 years and subsequently held junior hospital appointments in Newcastle-upon-Tyne. During the Second World War he served in the Royal Air Force as a medical officer. He distinguished himself with his studies of the effect of carbon monoxide accumulation on the air crew in the poorly ventilated rear cockpits of the Whitley bombers. While posted in the Middle East he became engaged in field research in malaria and kala azar. His innovative use of DDT to destroy the sandfly, which is the vector of Kala Azar, earned him the Order of the British Empire. After the war he returned to London, where he obtained his medical doctorate in 1948. Besides practising he pursued an academic career, and in 1950 became assistant to Professor Alan Moncrieff at the Great Ormond Street and Queen Elizabeth Children's Hospitals, London. In 1954 he became the founder of the first paediatric endocrine unit in the United Kingdom, at the Queen Elizabeth Hospital.

10. Silver-Russell Syndrome, Ascertainment Of Uniparental Disomy silverrussell syndrome, ascertainment of uniparental disomy. Molecular geneticand clinical investigations of more than 100 patients and their families. http://www.research-projects.unizh.ch/med/unit42200/area313/p2319.htm

research project Silver-Russell syndrome, ascertainment of uniparental disomy Molecular genetic and clinical investigations of more than 100 patients and their families. Contacts Prof. A. Schinzel (Project Leader) schinzel@medgen.unizh.ch Dr. A. Baumer (Project Leader) baumer@medgen.unizh.ch Dr. M. Riegel Supported By Companies Last Update Responsible Project Leader: Prof. A. Schinzel, Dr. A. Baumer Professor or Research Area Leader: Prof. Dr. Albert Schinzel Institute or Clinic: Faculty: Use the Eurospider retrieval system to find similar projects Use the Eurospider retrieval system to search the research report For authorized person(s) only Comments to uni research page generation 06.03.2003

11. Raisingkids: Ask Our Experts - Silver-Russell Syndrome Ask Our Experts silverrussell syndrome What is silver-russell syndrome,and is it associated with poor weight-gain? Our nutrition http://www.raisingkids.co.uk/ask/ex03_pri01.asp

SITEMAP Site Search Home 1st Time Here? Free Membership! Help! How Do I... ... About Us Ask Our Experts: Silver-Russell Syndrome What is Silver-Russell Syndrome, and is it associated with poor weight-gain? Our nutrition expert, David Swain, advises. Raisingkids member's problem My son has been fed though a gastrostomy since he was 3 months old and now he won't eat. He gets 1000 ml of 'Nutrini Extrain' his feeding pump at night but he's still underweight and doesn't put on weight well. He also has Silver-Russell Syndrome and a curved spine - could this have anything to do with it? If not, have you any suggestions on how to help? He is 5 yrs-old now, and I don't get any answers from anybody. David's advice Russell-Silver syndrome (RSS) has a number of recognised characteristics. Some individuals have many of the documented traits, while others have very few. Almost every individual with the syndrome has: low birth weight (Intrauterine Growth Retardation) decreased birth length triangular shaped face (lessens with age) long narrow head at birth postnatal growth retardation poor appetite in early years Beyond this the characteristics vary very widely. However, the early years are often the most difficult and typically appetite will improve with age.

12. Raisingkids: Ask Our Experts - Ask Our Dietitian Did you know what happens to vitamins in soup if you cook it too long? Whatis silverrussell syndrome, and is it associated with poor weight-gain? http://www.raisingkids.co.uk/ask/ex03_pri.asp

SITEMAP Site Search Home 1st Time Here? Free Membership! Help! How Do I... ... About Us 4-9 Yrs: Ask Our Dietitian State-registered dietitian David Swain advises on your children's diet and nutritional needs. Did you know what happens to vitamins in soup if you cook it too long? What is Silver-Russell Syndrome, and is it associated with poor weight-gain? And with so much speculation in the media, many parents want to know if certain foods can affect a child's behaviour. David helps separate food myths from nutrition facts! Silver-Russell Syndrome NEW! Restricted Diet At Christmas NEW! Ask Our Members - Parents Recount Their Experiences Print-Friendly Latest Pages Read all about it: Weekly news Don't miss out on our great prizes! New comps What are our members talking about? Discussions Check this out! Ask Dave... 'My teen wants to try a low-carb diet.

13. Silver-Russell Syndrome From Pediatrics / Genetics And Metabolic Disease eMedicine Journal Pediatrics Genetics And Metabolic Disease SilverRussellSyndrome Synonyms, Key Words, and Related Terms SRS, Russell-Silver syndrome http://author.emedicine.com/PED/topic2099.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Silver-Russell Syndrome Synonyms, Key Words, and Related Terms: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Ainu Prakash-Cheng, MD, PhD , Assistant Professor of Human Genetics and Pediatrics, Department of Human Genetics, Mount Sinai School of Medicine Coauthored by Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Ainu Prakash-Cheng, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American Society of Gene Therapy , and American Society of Human Genetics Edited by Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota;

14. Table Of Contents: Pediatrics Syndrome Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Complex DeficiencyRubinsteinTaybi Syndrome silver-russell syndrome Sitosterolemia Sjögren http://author.emedicine.com/ped/GENETICS_AND_METABOLIC_DISEASE.htm

Table of Contents: Pediatrics GENETICS AND METABOLIC DISEASE Achondrogenesis Achondroplasia Aicardi Syndrome Alkaptonuria ... von Hippel-Lindau Disease

15. Nature Publishing Group: Error Page Original paper. Human EGFR, a candidate gene for the silverrussell syndrome,is biallelically expressed in a wide range of fetal tissues. http://www.nature.com/doifinder/10.1038/5200179

ERROR The DOI Handle you have entered is invalid. Please check the Handle and try again. For information on the Digital Object Identifier Handle, please visit the website of the DOI Foundation, at www.doi.org In order to contact Customer Services please click here

16. Nature Publishing Group Evidence from skewed X inactivation for trisomy mosaicism in silverrussell syndrome. Silver-Russellsyndrome; trisomy 7; mosaicism; skewed X inactivation. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n12/abs/5200740

17. Health Library - Russell Silver Syndrome (RSS) Synonyms. RSS; SRS; Russell Syndrome; Silver Syndrome; silverrussell syndrome;Russell-Silver Dwarfism; Silver-Russell Dwarfism. Disorder Subdivisions. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

18. Russell (Silver) Syndrome Syndrome; Support Group; Support Group; silverrussell syndrome, ascertainmentof uniparental disomy; Also see Uniparental Disomy. HOME http://www.bdid.com/russellsilver.htm

HOME Russell (Silver) Syndrome Russell-Silver Syndrome Description Russell-Silver Syndrome Support Group ... Silver-Russell syndrome, ascertainment of uniparental disomy Also see Uniparental Disomy HOME

19. Silver-Russell Syndrome (SRS) Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View theFull Record Syndrome, silverrussell syndrome (SRS). Synonyms, Russell dwarf. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome593.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Silver-Russell syndrome (SRS) Synonyms Russell dwarf Russell nanism Russell syndrome Russell-Silver dwarfism Russell-Silver syndrome (RSS) Summary A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, café-au-lait spots, digital anomalies, hip or elbow dislocations, and other abnormalities. Major Features Head and neck: Characteristic facies with a small triangular face, prominent or bossed forehead, and mandibular micrognathia with a pointed chin. Eyes: Blue sclera. Mouth and oral structures: Wide mouth with down-turned corners and a thin vermilion border of the upper lip and crowded teeth. Hand and foot: Hypoplasia of the middle phalanges causing incurved fifth fingers, clinodactyly, and pseudoepiphyses of the metacarpal bones. Extremities: Slender long bones, shortened humerus, and elbow dislocation. Skin: Café-au-lait spots.

20. NORD - National Organization For Rare Disorders, Inc. RSS) RussellSilver Dwarfism; Silver Syndrome; Silver-Russell Dwarfism;silver-russell syndrome. Disorder Subdivisions Russell-Silver http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Russell Silve

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