61. StartHere Content About us. sotos syndrome. sotos syndrome is characterised by excessivegrowth that occurs in the womb and after birth. When they are http://www.gosport.gov.uk/starthere/html/M growth 16.htm

Back Main index Medical a-z About us Sotos syndrome Sotos syndrome is characterised by excessive growth that occurs in the womb and after birth. When they are born, affected babies have unusually long bodies not in proportion to their weight, which may also be above average. They tend to have advanced bone growth, large hands or feet, and characteristic facial features such as an unusually large head, widely spaced eyes or an unusual chin. Rapid growth continues until children are about four or five years of age when their growth may slow to a normal rate. Adults with Sotos syndrome are usually above average height. Some people are extremely tall. Growth disorders index

62. Entrez PubMed Error occurred Document internals (TXmlObj) retrieval error 4 http://www.facultyof1000.com/pubmed/11896389

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Nat Genet. 2002 Apr;30(4):365-6. Epub 2002 Mar 18. Related Articles, Links Haploinsufficiency of NSD1 causes Sotos syndrome. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.

63. Indian Pediatrics - Editorial Abstract A case of cerebral gigantism (sotos syndrome) with Westsyndrome in a one year old male child is reported. The case had http://www.indianpediatrics.net/july2003/july-673-675.htm

64. Soto's Syndrome In Health > Conditions And Diseases > Genetic Disorders http//www.ninds.nih.gov/health_and_medical/disorders/sotos. sotos syndromeSupport Association. sotos syndrome Support Association of Canada. http://ilectric.com/glance/Health/Conditions_and_Diseases/Genetic_Disorders/Soto

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65. BJU International (February 1999), 83.3 BJU International (February 1999), 83.3 Testicular yolk sac tumourin a patient with sotos syndrome O. Muraishi , T. Kumamaru , Y http://www.bjui.org/83/3/article/bju988.asp

Quick Search: You are in: Home Online Content List of Issues BJU International (February 1999), 83.3 Testicular yolk sac tumour in a patient with Sotos syndrome O Muraishi , T Kumamaru , Y Nozaki , Y Mori and A Tokue Departments of Urology, Pediatrics, Jichi Medical School, Tochigi, Japan Case report Comment References Fig. 1 ). The patient was followed up without further adjuvant therapy. Serum AFP levels decreased gradually and became almost normal (8 ng/mL) at 7 months after surgery. The overgrowth disorder of the patient was followed in the paediatric department. His weight and length were 15.4 kg and 90 cm at the age of 14 months. The patient was diagnosed as having Sotos syndrome by his clinical characteristics, i.e. excessive growth during the first year of life, mental retardation, advanced bone age, and facial dysmorphic features including frontal bossing, antimongoloid slant, palpebral fissures and dolicocephaly ( Fig. 2 Comment Case report References Sotos syndrome is characterized by accelerated growth, minor craniofacial anomalies and intellectual deficits. An increased incidence of malignancies among Sotos syndrome patients has been suggested [ ]. A review of the world literature revealed no reported case of testicular tumour in Sotos syndrome. This patient developed yolk sac tumour in the left testis at 6 months and was diagnosed as having Sotos syndrome after 9 months of follow-up in the paediatric department. This is the first reported case of testicular yolk sac tumour occurring with Sotos syndrome.

66. Exploring Autism sotos syndrome — sotos syndrome is an overgrowth syndrome and shouldbe considered in individuals with autism and macrocephaly. http://www.exploringautism.org/autism/evaluation.htm

What is Autism? Genetic Conditions Associated with Autistic Disorder Autistic disorder and other PDDs are due in large part to genetic factors. In some instances, autistic disorder is a feature of an identifiable genetic condition. More frequently, however, no underlying specific cause can be determined (this is called idiopathic autism, meaning autism of unknown cause). There is a great deal of evidence that idiopathic autism is caused by changes or "mutations" in genes. However, these genes have not yet been identified. An estimated 10 to 15 percent of individuals with autistic disorder have an identifiable genetic condition (Gillberg et al 1996; Rutter et al 1994). Recognizing a genetic condition is vital because it may alter treatment or therapy options. Diagnosing a genetic condition also enables health care providers to both estimate the chance of recurrence in other family members and discuss the availability of diagnostic testing for other family members. Numerous chromosome abnormalities have been reported in individuals with autism, most often involving chromosome 15 (specifically 15q11-q13, the Prader-Willi/Angelman syndrome region). Studies of individuals with idiopathic autism show the frequency of chromosome abnormalities to be less than 5 percent (Folstein et al 2001). Chromosome abnormalities may be passed from parent to child or can occur sporadically. A blood sample is all that is needed to create a karyotype for chromosome analysis. If a chromosome abnormality is identified, testing other family members is recommended. In some instances family members may be unaware that they have a chromosome abnormality because they carry a balanced rearrangement that produces no symptoms.

67. NINDS: Organization Contact Information sotos syndrome Support Association 3 Danada Square East PMB 235 Wheaton, IL 60187Tel 888246-7772 630-682-8815 Email sssa@well.com http//www.well.com/user http://www.ninds.nih.gov/find_people/vol_org.htm?index=746&webcode=A2

68. IV SPECIFIC DISABILITIES (continued) SMITHMAGENIS SYNDROME. PRISMS Parents Researches Interested in Smith-MagenisSyndrome. sotos syndrome. sotos syndrome USA Support Association. http://pourhouse.com/ramp/ramp4.htm

IV: SPECIFIC DISABILITIES (continued) OBSESSIVE-COMPULSIVE DISORDER OC Foundation OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta Foundation OXALOSIS HYPEROXALURIA PEUTZ-HEGHERS SYNDROME Hereditary Colon Cancer Registry POLYPOSIS Intestinal Multiple Polyposis and Colorectal Cancer Familial Gastrointestinal Cancer Registry PSORIASIS National Psoriasis Foundation RESPIRATORY PAPILLOMATOSIS, RECURRENT Recurrent Resiratory Papillomatosis Foundation RETT SYNDROME International Rett Syndrome Association SCLERODERMA United Scleroderma Foundation SCOLIOSIS National Scoliosis Foundation SEPTO-OPTIC DYSPLASIA Special Parents Sharing Special Children FOCUS:For our Children's Unique Sight SHWACHMAN SYNDROME Shwachman Syndrome Support Services SMITH-MAGENIS SYNDROME SOTOS SYNDROME Sotos Syndrome USA Support Association Sotos Syndrome Support Association of Canada (SSSAC) Association Canadienne d'entraide du Syndrôme de Sotos (ACESS) SPINAL CORD INJURIES National Spinal Cord Injury Association American Paralysis Association STARGARDT DISEASE Stargardt International and Juvenile macular Dystrophies STUTTERING Stuttering Foundation of America National Stuttering Project National Center for Stuttering SYRINGOMYLEIA ASAP: American Syringomyelia Alliance Project THROMBOCYTOPENIA ABSENT RADIUS (TAR) SYNDROME TAR Association TOURETTE SYNDROME Tourette Syndrome Association TUBEROUS SCLEROSIS Tuberous Sclerosis Canada National Tuberous Sclerosis Association TWIN TO TWIN TRANSFUSION SYNDROME Twin to Twin Transfusion Syndrome Foundation

69. Health Library - sotos syndrome. Important It is possible that the main title of thereport sotos syndrome is not the name you expected. Please check http://12.31.13.29/library/healthguide/IllnessConditions/topic.asp?hwid=nord271

70. P026-Sotos sotos syndrome (MIM 117550) is a disorder characterized by excessively rapidgrowth during childhood, advanced bone age, acromegalic features, and a http://www.mrc-holland.com/p026.htm

P026: SALSA NSD1 REGION TEST KIT click here for a printable more detailed version. Sotos syndrome (MIM 117550) is a disorder characterized by excessively rapid growth during childhood, advanced bone age, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. Affected children have large hands and feet from birth. Growth is rapid in the first years of life, but final height may not be excessive. Handicaps tend to improve with age, which makes identification of affected adults difficult. It has recently been shown that Sotos syndrome is caused by mutations in the NSD1 gene that encodes the Androgen Receptor-associated coregulator 267 (ARA267 / NUP98) protein (Kurotaki,N. et al, (2002) Nature Genetics 30, 365-366). Complete deletion of the NSD1 gene on chromosome 5q35 was found to be the cause in approximately 50% of the Sotos syndrome cases by the studied population. Point mutations were identified in 4 out of 38 individuals. A deletion of one or more exons of a gene will usually not be detected by techniques like sequencing or DGGE, as a normal copy is also present. FISH is useful in case the complete gene is deleted but is not sensitive enough to detect copy number changes of a single exon. Southern blots will not detect deletions that extend beyond the probe sequence and are difficult to perform quantitatively. Real time PCR is not reproducible enough to reliably detect a 50% decrease in copy number of a small genomic sequence, and cannot be easily used in multiplex format.

71. Health Hotlines From The National Library Of Medicine Full Record. Organization Name, sotos syndrome Support Association.Organización, Asociación de Apoyo del Síndrome Sotos. Address, http://www.sis.nlm.nih.gov/cgi-bin/hotlines/FindOrg?Record=480

72. Sotos Syndrom - Små Och Mindre Kända Handikappgrupper sotos syndrome a study of the diagnostic criteria and natural history. MainoDM, Kofman J, Flynn MF, Lai L. Ocular manifestations of sotos syndrome. http://www.sos.se/smkh/1997-29-020/1997-29-020.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Sotos syndrom Cerebral gigantism Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2002-02-25 Version: 3.0 Artikelnummer: 1997-29-020 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Praktiska tips mun-h-center@vgregion.se , Internetadress www.mun-h-center.com Resurspersoner Kurser, erfarenhetsutbyte, rekreation

73. Willkommen Bei E I S S Eltern-Initiative, Sotos-Syndrom Translate this page Nehmen Sie mit uns Kontakt auf! What is EISS? EISS is a parent supportgroup for families with a child which has sotos syndrome. http://www.sotossyndrom.de/

Wer sind wir? What is EISS? EISS is a parent support group for families with a child which has Sotos syndrome. Founded in 1995 to give families a forum for discussion, one of our main goals is to supply families and professionals with information about this rare overgrowth syndrome. If you are interested in contacting us, please don't hesitate to do so. Besucher E-mail: info@sotossyndrom.de Diese Internet-Seiten entstanden

74. OASIS Information & Referral : Service Program Records For The Keyword Sotos Syn OASIS Information Referral. Programs attached to keyword sotos syndromeSelect a letter from the list to find matching keywords http://oasis.ouhsc.edu/Directory/_18m0zo6nu.html

Programs attached to keyword Sotos Syndrome Select a letter from the list to find matching keywords A B C D ... Y

75. EFM Connections sotos syndrome. sotos syndrome Support Assoc. The sotos syndromeSupport Association (SSSA) is composed of families, physicians http://www.efmconnections.org/efm/Resources/Resources.asp?category01Id=74

76. Kprones BannayanID10044 Arch Path 1971; 92 15. Medline 71233629. sotos syndrome with intestinal polyposisand pigmentary changes of the genitalia. Ruvalcaba RHA, Myhre S, Smith DW. http://www.infobiogen.fr/services/chromcancer/Kprones/BannayanID10044.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Bannayan-Riley-Ruvalcaba syndrome Identity Other names Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Macrocephaly, pseudopapilledema, multiple hemangiomata Macrocephaly, multiple lipomas, hemangiomata Inheritance autosomal dominant; existence of sporadic cases Clinics Note Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are : Beckwith-Weideman syndrome Sotos syndrome (cerebral gigantism), Hemihyperplasia (hemihypertrophy), and Simpson Golabi Behemel syndrome Phenotype and clinics onset in chilhood (in contrast with Cowden disease , although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients). - overgrowth at birth (postnatal growth decelerates). - macrocephaly - hypotonia and mental deficiency - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.

77. MEDLINE For Gene 1830 Stumpel CT, SchranderStumpel CT;Fryns JP;Hamers GG sotos syndrome and de novo balancedautosomal translocation (t(3;6)(p21;p21)) (see comments) Clin Genet 1990 http://caroll.vjf.cnrs.fr/cgi-bin/Abin/Amedline.sh?&id=1830

78. CancerGene ARA267 S;Le Merrer M;Munnich A;Gicquel C;CormierDaire V;Colleaux L Paradoxical NSD1 mutationsin Beckwith-Wiedemann syndrome and 11p15 anomalies in sotos syndrome. http://caroll.vjf.cnrs.fr/cancergene/CG1830.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases Name androgen receptor-associated coregulator 267; hypothetical protein FLJ22263 similar to nuclear receptor-binding SET-domain protein 1 Locus OMIM GDB SwissProt LocusLink Atlas of Genetics and Cytogenetics in Oncology and Haematology : Class TRANSLOC Keywords NSD gene family; PHD-finger motif; Receptors, Androgen; SET domain; Trans-Activators; androgen receptor coactivator; transcriptional intermediary factor Diseases Leukemia, Myelocytic, Acute Comments The proteins of the NSD gene family [NSD1, NSD2 ( CG:971 ) , and NSD3 ( CG:1991 )] are highly similar within a block of about 700 amino acids. This block contains several conserved domains, such as the SET domain and the PHD finger, present in proteins involved in development and/or chromatin reorganization. First to be isolated was the murine Nsd1 ( PMID:9628876 GenBank:AF064553 ) in a search for proteins that interact with the ligand-binding domain of retinoic acid receptor alpha (RARA, CG:158 ). NSD1, a novel 2588 amino acid mouse nuclear protein interacts directly with the ligand-binding domain (LBD) of several nuclear receptors (NRs). In addition to the conserved domains (a SET domain and multiple PHD fingers) found in both positive and negative Drosophila chromosomal regulators, NSD1 contains two distinct NR interaction domains, NID-L and NID+L, that exhibit binding properties of NIDs found in NR corepressors and coactivators, respectively.

79. Online And Offline Support: S sotos syndrome. Please note People with sotos syndrome have craniofacialanomalies that do not require reconstructive surgery. Sotos http://www.widesmiles.org/support/s.html

S Scleroderma Please note: Scleroderma can affect any part of the body. The Scleroderma Research Foundation People Served: Individuals dealing with scleroderma Services provided: Networking, support, and advocacy Address: Pueblo Medical Commons, 2320 Bath Street, Suite 307, Santa Barbara CA 93105 Phone number: 1-800-441-CURE Email Address: srfcure@srfcure.org Website: http://www.srfcure.org/ United Scleroderma Foundation People Served: Individuals dealing with scleroderma Services provided: Offline: Conferences, Chapters and Support Groups, Literature, Online: links and chats on AOL Street Address: 734 E Lake Avenue, Suite 5, Watsonville CA 95077 Mailing Address: PO Box 399, Watsonville CA 95077 Phone number: 1-800-722-HOPE Email Address: outreach@scleroderma.com Website: http://www.scleroderma.com/ Septo-optic Dysplasia Please note: Septo-optic dysplasia can occur with craniofacial anomalies. Septo-optic Dysplasia Support Group People served: Individuals and families dealing with septo-opto dysplasia Services provided: Information, resources, email discussions, chats, and photo gallery Contact person: Cindy Rose Email address: roses8@impulsedata.net

80. OMIM - SOTOS SYNDROME http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117550

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