1. Costello Syndrome Syndrome, costello syndrome. Synonym, faciocutaneoskeletal (FCS) syndrome. Summary, Retarded growth and mental development, coarse facies, nasal papillomata http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome249.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Costello syndrome Synonym faciocutaneoskeletal (FCS) syndrome Summary Retarded growth and mental development, coarse facies, nasal papillomata, cutis laxa of the hands and feet, and other abnormalities. Major Features Head and neck: Macrocephaly, coarse facies, large fontanels or delayed closure and wide and long forehead. Papillomata around the mouth and nares. Ears: Low-set ears with thick lobes. Eyes: Downslanting palpebral fissures and strabismus. Nose: Depressed nasal bridge and epicanthal folds. Mouth and oral structures: Wide and large mouth with thick lips, macroglossia, highly arched palate, and tooth enamel dysplasia. Neck: Short neck. Thorax: Barrel chest. Abdomen: Hernia. Hand and foot: Hyperkeratosis palmaris et plantaris, palmar nevi, short and flat hyperextensible fingers, ulnar deviation of hands, and positional defects of the feet. Dermatoglyphic findings consist of deep plantar and palmar creases. Extremities: Tight Achilles tendon and defective elbow extension.

2. Redirect References, gene map, and clinical synopsis. http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218040

3. Costello Syndrome View the Full Record. Syndrome costello syndrome. Synonym faciocutaneoskeletal (FCS) syndrome. Summary http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Search Jablonski's Syndromes Database COSTELLO KIDS HOME PAGEOfficial site of the International costello syndrome Support Group. Includes medical information, photographs and videos, therapy ideas, news, and links. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Costello syndrome&field=n

5. COSTELLO KIDS HOME PAGE Official site of the International costello syndrome Support Group. Includes medical information, photographs and videos, therapy ideas, news, and links. http://www.costellokids.co.uk/

Welcome to the International Costello Syndrome Support Group Enter Slide Show Music composed by Paolo Fava - Father to Dario To view the slide show please wait for it to load. Otherwise Click on Enter to visit the site Welcome to the website of the International Costello Syndrome support group. We are a parent lead support group with a world wide membership of over 100 families. Through the support group our members can keep in contact with others through our listserve, by annual conference and newsletters. Gaining knowledge and support from others. If you require any information or support Please Contact either Colin Stone in the UK or Lisa Schoyer in the United States. PLEASE help us by including your address / contact details along with your request for information. This will help us to provide a better level of support and information. News Get ready for the 4th International Costello Syndrome Conference Hosted by Saint Louis University and the United States Costello Syndrome Family Network (USCSFN). See the conference Pages for More Information

6. Costello Syndrome costello syndrome is an extremely rare disorder that affects multiple organ systems of the body (multisystem disorder). costello syndrome is http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. About Costello Syndrome Page 1 Children with costello syndrome have normal birth weight, and may be large at birth with birth weights in the upper normal range. http://www.costellokids.co.uk/about.htm

In 1987 Dr Costello a paediatrician in New Zealand, published in the Australian Paediatric Journal a report of two children with similar physical characteristics and mild intellectual handicap. He had published a brief description of the children in a New Zealand Medical Journal some six years before. In 199I Dr Der Kaloustian reported a similar child and suggested that this particular pattern of growth, behavioural and physical features be called Costello Syndrome. The word syndrome is derived from the old Greek and merely means "running together." There are many thousands of syndromes in the medical literature and they often have the name of the first person to recognise that particular constellation of physical and behavioural and developmental characteristics are related with a common, even if unknown cause. Dr Costello in 1996 published a follow up of his original cases and reviewed the characteristics of 16 children in the literature with the diagnoses of Costello Syndrome. If one excluded the cases where the diagnoses has been disputed, there are published reports now on over 26 children. Children with Costello Syndrome have normal birth weight, and may be large at birth with birth weights in the upper normal range. Children with Costello syndrome have normal birth weight, and may be large at birth with birth weights in the upper range. The pregnancies have most often been described as normal but there are occasional reports of decreased foetal movements and there is excess fluid around the baby in approximately a third of the pregnancies.

8. Costello Syndrome costello syndrome, Online Mendelian Inheritance in Man (OMIM) 218040 Synopsis. costello syndrome, National Library of Medicine http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Costello Syndrome Costello Kids, United Kingdom International costello syndrome Support Group 90 Parkfield Road North, New Moston, Manchester, ENGLAND M40 3RQ Tel 44 161 http://www.kumc.edu/gec/support/costello.html

Costello syndrome Costello Kids , United Kingdom International Costello Syndrome Support Group 90 Parkfield Road North, New Moston, Manchester, ENGLAND M40 3RQ Tel 44 161 682 2479 E-mail: c.a.stone@mmu.ac.uk Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Costello Syndrome , Online Mendelian Inheritance in Man (OMIM) #218040 Synopsis Costello Syndrome , National Library of Medicine To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

10. COSTELLO KIDS HOME PAGE Welcome to the International costello syndrome Support Group Enter Slide Show Music composed by Paolo Fava Father to Dario http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Costello Syndrome costello syndrome is an extremely rare disorder that affects multiple organ systems of the body (multisystem disorder). costello syndrome is characterized http://www.bchealthguide.org/kbase/nord/nord1081.htm

var hwPrint=1;var hwDocHWID="nord1081";var hwDocTitle="Costello Syndrome";var hwRank="1";var hwSectionHWID="nord1081-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Costello Syndrome Important It is possible that the main title of the report Costello 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. Synonyms Faciocutaneoskeletal Syndrome FCS Syndrome Disorder Subdivisions None General Discussion Resources Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545 Tel: (516)671-4041 Fax: (516)671-4055 Tel: (800)451-6434 Email: hgf1@hgfound.org Internet: http://www.hgfound.org/ MAGIC Foundation for Children's Growth 6645 W. North Avenue Oak Park, IL 60302 Tel: (708)383-0808 Fax: (708)383-0899 Tel: (800)362-4423 Email: mary@magicfoundation.org Internet: http://www.magicfoundation.org March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605

12. About Costello Syndrome Page 2 All children with costello syndrome have difficulty feeding and frequently severe failure to thrive. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Kprones CostelloID10075 costello syndrome two cases with embryonal rhabdomyosarcoma. Bladder carcinoma in costello syndrome report on a patient born to consanguineous parents http://www.infobiogen.fr/services/chromcancer/Kprones/CostelloID10075.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Costello syndrome Identity Other names Noonan-like syndrome with nasal papillomata Inheritance The vast majority of cases are sporadic. An increase in mean paternal age has been demonstrated, favouring the hypothesis of dominant de novo mutations, but a microdeletion is an alternative explanation. Clinics Note Costello syndrome is a multiple congenital anomalies/mental retardation syndrome characterised by severe growth abnormalities and a predisposition to develop childhood tumours, especially rhabdomyosarcomas. Phenotype and clinics Costello syndrome is characterised by Growth abnormalities: whereas new-born are often macrosomic and macrocephalic they exhibit severe feeding difficulties and failure to thrive during the first months of life, up to two years of age. After this marasmic period, growth velocity is restored but the final height is short. Ectodermal abnormalities are characterised by loose and dark-coloured skin, and a predisposition to develop multiple papillomata, which when present are highly suggestive of the diagnosis. Mental retardation is usually mild and most patients with CS have an happy, ongoing personality.

14. Retrovirally Mediated Overexpression Of Versican V3 Reverses of Versican V3 Reverses Impaired Elastogenesis and Heightened Proliferation Exhibited by Fibroblasts from costello syndrome and Hurler Disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. BBC - Health - Conditions - Costello Syndrome A guide to costello syndrome, its symptoms, treatments and where to get support. http://www.bbc.co.uk/health/conditions/costello1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Costello syndrome Dr Trisha Macnair There have only been 150 reported cases of this rare inherited disorder, but more may have gone unrecognised. We look at the symptoms and possible causes. In this article What is it? Symptoms Who's affected? Causes ... Treatment What is it? Costello syndrome is a rare inherited disorder. It was first reported in 1987 by a paediatrician in New Zealand, who described two children with similar physical features and mild learning disabilities. There's also a characteristic pattern of growth, behavioural problems and physical appearance. Symptoms Children with Costello syndrome are born with a normal or slightly high birth weight. In a few cases, mothers report decreased foetal movement during the pregnancy and in one in three cases, there's excessive fluid around the baby in the wom (polyhydramnios). Typical features, which become more obvious as the child grows, include: short stature delayed bone age redundant skin around the neck, palms, soles and fingers

16. Online Mendelian Inheritance In Man Costello Syndrome References, gene map, and clinical synopsis. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Gene Stories - Health costello syndrome. Helaina s story started 12 years ago. For further information on costello syndrome please visit the website of the International http://www.bbc.co.uk/health/genes/disorders/case_studies/costello/introduction.s

Costello Syndrome Helaina's story started 12 years ago. We had always wanted a baby ever since getting married. But as time went by I was never lucky enough to get pregnant. We decided to have some tests and discovered that we both had problems and further treatment would be needed. So after several years of tests, more tests, treatment and failures, I finally became pregnant in summer of 1993. We were elated, and celebrated in style. At 15 weeks into the pregnancy I went along to the local hospital for my first check up. The doctor thought that I had too much fluid and ordered a scan. The doctors in the scan room started to talk each other - and I knew there was something wrong. We were then ushered into a side room and offered coffee. We were told that there was a 'problem' but it would be better to do an amniocentesis test to find out what was wrong. They thought that the baby had Down's syndrome. We had the test done straight away and we had an anxious 2 and a half week wait for the results. The result of the test was negative but the joy was overshadowed by the knowledge that if it was not Down's Syndrome, then what was wrong? 2 weeks after we had the amniocentesis results. I had another scan, this time there was a geneticist, a senior radiographer and my gynaecologist present. The scan lasted almost an hour, after which the doctors got together and had a chat. I felt angry. Why did nothing go right for us? We had spent seven years waiting for this baby, then all this.

18. Is The Locus For Costello Syndrome On 11p? Kerr Et Al. 40 (6) Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Costello Syndrome Information Diseases Database costello syndrome,Faciocutaneoskeletal syndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb32846.htm

Diseases Database Index Sponsors Contact ... Previous Page Costello syndrome information Search 2 synonyms or equivalents were found. Costello syndrome aka/or Faciocutaneoskeletal syndrome may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Costello syndrome: Definition(s) via UMLS Code translations and terms via UMLS Costello syndrome: specific web sites Send Costello syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 01:43:57 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

20. Is The Locus For Costello Syndrome On 11p? Kerr Et Al. 40 (6) Is the locus for costello syndrome on 11p? B Kerr1 , M L Mucchielli2 , S Sigaudy2 , M Fabre3 , P Saunier4 , M A Voelckel2 , E Howard1 , R Elles1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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