21. Service Page - Pathologie Information DISEASE Mental retardation nasal papillomata, Synonym(s) Costellosyndrome, CIM Q87.8, costello syndrome is characterised by postnatal http://orphanet.infobiogen.fr/Site/Exp.stm?Lng=GB&Expert=3071

22. Costello Syndrome With Decreased Glucose Tolerance - European Journal Of Dermato costello syndrome with decreased glucose tolerance. ARTICLE, Haut de page. SinceCostello reported two cases in 1971, the syndrome has become an entity. http://www.john-libbey-eurotext.fr/articles/ejd/9/7/533-6/

European Journal of Dermatology European Journal of Dermatology. Vol. 9, Issue 7, October - November 1999: 533-6, Genes and skin Costello syndrome with decreased glucose tolerance Susan SZALAI1 Krisztina BECKER2 Fax: (+36) 1 3330 167 e-mail:suni@mail.matav.hu 2, Semmelweis University of Medicine of Dermato-Venerology. Reprints S. Szalai. RESUME SUMMARY ARTICLE, Part. 1 ... FIGURES RESUME / SUMMARY Haut de page We report a case of Costello syndrome, which is an uncommon multisystemic condition with cutaneous manifestations on the palms and soles. In the literature there are 29 cases described, all the studies are published in the genetic literature with a few exceptions. We add a further case associated with impaired glucose tolerance. Key-words acanthosis nigricans, Costello syndrome, impaired glucose tolerance, keratoderma, loose skin, palmo-plantar hyperkeratosis. ARTICLE Haut de page Since Costello reported two cases in 1971, the syndrome has become an entity. These patients had coarse faces, redundant skin on the hands and feet, curly hair, growth- and psychomotor retardation. Common but not invariable features are nasal polyps and typical facies associated with feeding problems in infancy and a distinctive friendly personality. Cardiomyopathy may occur, other visceral involvement is rare. The natural history evolves in two phases, a severe failure to thrive during the first months, contrasting with normal weight gain in later life. Accumulation of case reports revealed an additional characteristic phenotype [1].

23. Costello Syndrome With Decreased Glucose Tolerance - European Journal Of Dermato Vol. 9, Issue 7, October November 1999 costello syndrome with decreasedglucose tolerance. European Journal of Dermatology. Vol. http://www.john-libbey-eurotext.fr/articles/ejd/9/7/533-6/en-resum.htm

European Journal of Dermatology. Vol. 9, Issue 7, October - November 1999 Costello syndrome with decreased glucose tolerance European Journal of Dermatology. Vol. 9, Issue 7, October - November 1999: 533-6, Genes and skin Summary: Author(s): S. Szalai, K. Becker, E. Török Keywords: acanthosis nigricans, Costello syndrome, impaired glucose tolerance, keratoderma, loose skin, palmo-plantar hyperkeratosis. © John Libbey Eurotext

24. Costello Syndrome Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View the FullRecord Syndrome, costello syndrome. Synonym, faciocutaneoskeletal (FCS) syndrome. 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.

25. Health Library - Costello Syndrome Topics. costello syndrome. Self Help Clearinghouse. International CostelloSyndrome Support Group. International network. Founded http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

26. NORD - National Organization For Rare Disorders, Inc. costello syndrome. To purchase fulltext report ($7.50) Copyright 1997, 2001Synonyms of costello syndrome FCS Syndrome; Faciocutaneoskeletal Syndrome. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Costello Synd

27. Health Library - Costello Syndrome FREE. costello syndrome. Self Help Clearinghouse. International CostelloSyndrome Support Group. International network. Founded http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

28. Sindrome Costello Syndrome Bambi Sindrome di Costello costello syndrome http//www.chirurgiapiedepisani.it/c.rara.htmhttp//www.kumc.edu/gec/support/costello.html http//costellokids.cjb.net http://fastnet.it/enti/bambi/sindrome-costello.htm

Sindrome di Costello Costello Syndrome http://www.chirurgiapiede-pisani.it/c.rara.htm http://www.kumc.edu/gec/support/costello.html http://costellokids.cjb.net/ http://www.biotech.ist.unige.it/cldb/pat293.html ... http://www.medynet.com/usuarios/webped/medalfa/sdcostello.htm BAMBI -INFORMAZIONI SULLE MALATTIE RARE DEI BAMBINI- E' ON LINE DAL 1997 E-mail ruffelli@tin.it

29. Birth Disorder Information Directory - CO-CZ costello syndrome (Faciocutaneoskeletal FCS Syndrome,Mental Retardation Nasal Papillomata) http://www.bdid.com/defectco.htm

HOME Co-Cy COACH Syndrome See Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis (COACH) Syndrome Coarctation of (the) Aorta (CoA) List of Sites Coats' Disease (Congenital Retinal Telangiectasia, Exudative Retinitis, Leber Miliary Aneurysm) Coats disease Cobb Syndrome Syndromes associated with AVMs Cocaine Antenatal Infection See Fetal Cocaine Syndrome Related Books Cochin Jewish Disorder (Haim Munk Syndrome, Keratosis Palmoplantaris Periodontopathia) Keratosis palmoplantaris periodontopathia KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS Cockayne Syndrome List of Sites COD-MD Syndrome See Walker Warburg Syndrome CODAS Syndrome (Cerebrooculodentoauriculoskeletal Syndrome) Cerebro oculo dento auriculo skeletal syndrome CODAS SYNDROME Coffin Syndrome (Arthritis Short Stature Deafness) Coffin syndrome Coffin-Lowry Syndrome List of Sites Coffin Siris Syndrome (Fifth Digit Syndrome) Coffin siris syndrome FIFTH DIGIT SYNDROME COFS Syndrome See Cerebrooculofacioskeletal (COFS) Syndrome Cohen Hayden Syndrome (Proteus-Like Syndrome with Mental Retardation and Eye Defects) Cohen hayden syndrome Cohen Lockood Wyborney Syndrome (Blepharophimosis Ptosis Syndactyly Mental Retardation) blepharophimosis ptosis syndactyly mental retardation Cohen Syndrome List of Sites Colavita Kozlowski Syndrome (Short Limb Dwarf, Lethal Colavita Kozlowski Type)

30. Birth Disorder Information Directory - F Facioauriculovertebral (FAV) Sequence See Goldenhar (Gorlin) Syndrome. Faciocutaneoskeletal(FCS) Syndrome See costello syndrome. Faciogenital Dysplasia http://www.bdid.com/defectf.htm

HOME F F Syndrome See Acropectorovertebral Dysplasia F Form of Acropectorovertebral Dysplasia See Acropectorovertebral Dysplasia Fabry Disease See (Anderson) Fabry Disease Facial Asymmetry/Hemihypertrophy See Hemifacial Hyperplasia Facial Palsy Partial with Urinary Abnormalities See Urofacial syndrome Facioaudiosymphalangism Syndrome See WL Syndrome F acio a uriculo v ertebral ( FAV ) Sequence See Goldenhar (Gorlin) Syndrome F acio c utaneo s keletal ( FCS ) Syndrome See Costello Syndrome Faciogenital Dysplasia See Aarskog (Scott) Syndrome Faciodigitogenital Syndrome Recessive Form See Aarskog-Like Syndrome Faciogenitopopliteal Syndrome (Popliteal Pterygium Syndrome) Cleft Lip/Palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies Also see Intersex Also see Popliteal Pterygium Syndrome, Lethal Type Faciopalatoosseous Syndrome See Otopalatodigital (OPD) Syndrome, Type II Facioscapulohumeral Muscular Dystrophy (FSH, Landouzy-Dejerine Dystrophy) DISTROFIA FACIOSCAPOLOMERALE Factor XI Deficiency GENETIC DISEASE FAQ Fahr Disease (Basal Ganglia Calcification, Idiopathic; Cerebral Calcification, Nonarteriosclerotic; Ferrocalcinosis, Cerebrovascular; S trio p alli d odentate [ SPD ] Calcinosis) FAHR DISEASE Fairbank's Disease See Beighton Goldberg Hoff Syndrome Familial Atypical Mole-Malignant Melanoma Syndrome See Melanoma, Familial/Cutaneous Malignant Type

31. Health Library - Costello Syndrome Search. costello syndrome. Self Help Clearinghouse. International CostelloSyndrome Support Group. International network. Founded http://www.stjosephhealth.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29c

32. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders costello syndrome . Sites. MedHelpDetails about the International costello syndrome Support Group. http://www.1uphealth.com/links/genetic-disorders-costello-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Costello Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Sites MedHelp Details about the International Costello Syndrome Support Group. Includes contact details. NORD - Costello Syndrome The synonyms, a general discussion and further resources. Yahoo! Groups An email group about Costello syndrome. Join, post and read mail. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

33. Health Library - Costello Syndrome Your Health. Search. costello syndrome. Self Help Clearinghouse. Internationalcostello syndrome Support Group. International network. http://yourhealth.stlukesonline.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=

34. Health Library - Costello Syndrome Advanced Search. costello syndrome. Self Help Clearinghouse. Internationalcostello syndrome Support Group. International network. http://www.stjudemedicalcenter.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=s

35. Gene Stories - Health costello syndrome. Helaina's story started 12 years ago. We had alwayswanted a baby ever since getting married. But as time went 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.

36. Gene Stories - Health Androgen Insensitivity Syndrome Denise Androgen Insensitivity Syndrome - Jan CongenitalAdrenal Hyperplasia (CAH) costello syndrome Dyslexia Klinefelter's http://www.bbc.co.uk/health/genes/disorders/personal_stories.shtml

CATEGORIES TV RADIO COMMUNICATE ... INDEX SEARCH MONDAY 31st March 2003 Text only BBC Homepage Health GENE STORIES ... Message Board QUICK LINKS Gene Stories - Home Who Am I? Gene Safari Future Human Court of Opinion GM Food DNA Detectives Contact Us Help Like this page? Send it to a friend! PRINT PAGE Many people and their families have to face the effects of living with a genetic condition every day. You can read some of their stories here. Index: Androgen Insensitivity Syndrome - Denise Androgen Insensitivity Syndrome - Jan Congenital Adrenal Hyperplasia (CAH) Costello Syndrome ... Conditions A-Z Find out information about the most common genetic related conditions. Eye Genes Your parents pass on one copy of each eye colour gene to you. Find out more. GENE STORIES SCIENCE GENE STORIES HEALTH GENE STORIES HISTORY Privacy

37. Costello Syndrome Publication Summery Later these cases were diagnosed as costello syndrome (Der Kaloustian, 1993;Zampino et al., 1993). Additional patients were reported by Say et al. http://sargon.mmu.ac.uk/sum.htm

Return to costello Kids Publication Summery (from OMIM Database) Costello (1977) described 2 unrelated children with a 'new' syndrome comprising short stature, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and mental retardation. Der Kaloustian et al. (1991) reported a boy with the same syndrome. The parents were not consanguineous in any of the 3 cases. The patient of Der Kaloustian et al. (1991) had an aged facial appearance with thin anterior hair of the head. Epicanthal folds, large, depressed nasal bridge, and large earlobes were noted. The verrucal lesions were present around the anus as well as around the mouth and nares. The loose skin over the hands and feet was also thickened and the palms and soles were hyperkeratotic. The skin color was generally dark. Some similarities to the cardiofaciocutaneous syndrome and Noonan syndrome were noted. Martin and Jones (1991) presented a 15-year-old girl with mental retardation, short stature, coarse face, thick and loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Berberich et al. (1991)

38. 1908: Costello Syndrome: Report Of Eight Patients Including One With A Rhabdomyo Program Nr 1908 costello syndrome report of eight patients includingone with a rhabdomyosarcoma. NM Philip 1 , S. Sigaudy 1 , D http://www.faseb.org/genetics/ashg99/f1908.htm

Program Nr: 1908 Costello syndrome: report of eight patients including one with a rhabdomyosarcoma. N.M. Philip , S. Sigaudy , D. Lacombe , G. Vittu , A. David , J. Vigneron , A. Moncla 1) Dept de Genetique Medicale, Hosp d'Enfants de la Timone, Marseille, Cedex 5, France; 2) Service de Genetique, Groupe Hospitalier Pellegrin, Bordeaux cedex, France; 3) Service de Neonatologie, centre Hosp Feron-Vrau, Lille cedex, France; 4) Service de Genetique Medicale, Hotel-Dieu, Nantes cedex 1, France; 5) Maternite Regionale A Pinard, Nancy cedex, France. Costello syndrome is now a well delineated congenital disorder, characterized by post-natal growth retardation, dysmorphism and mental retardation. Most cases are sporadic and a significant increase of mean paternal age has been reported, suggesting de novo dominant mutations. Besides papillomata, which were part of the initial description, patients tend to develop benign tumors of ectodermal origin. We report eight new patients with typical clinical findings and emphasize the importance of cardiac manifestations and the tendency to develop tumors. Seven out of the eigth children exhibited hypertrophic cardiomyopathy. One patient developed an embryonal rhabdomyosarcoma. Occurence of that type of tumor has already been reported twice in the literature. We suggest there might be a causal link between the development of such a rare tumor and this genetic disorder. A point mutation or a microdeletion in a tumor-suppressor gene could be involved in Costello syndrome.

39. Arch Pediatr Adolesc Med -- Page Not Found Denouement and Discussion costello syndrome. Figure differentiation. PATHOGENESIS.The cause of costello syndrome has not been determined. http://archpedi.ama-assn.org/issues/v154n6/ffull/ppm90468-1b.html

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40. Costello Syndrome AD.COM Web Directory, search, costello syndrome. Top Health Conditions_and_Diseases Genetic_Disorders Costello_Syndrome 2, NORD costello syndrome. http://www.ad.com/Health/Conditions_and_Diseases/F/__Faciocutaneoskeletal_Syndro

search Top MedHelp Details about the International Costello Syndrome Support Group. Includes contact details. Category: Health > Conditions and Diseases > Genetic Disorders > Costello Syndrome http://medhlp.netusa.net/amshc/amshc312.htm NORD - Costello Syndrome The synonyms, a general discussion and further resources. Category: Health > Conditions and Diseases > Genetic Disorders > Costello Syndrome Yahoo! Groups An email group about Costello syndrome. Join, post and read mail. Category: Health > Conditions and Diseases > Genetic Disorders > Costello Syndrome http://groups.yahoo.com/group/costello_syndrome/ AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

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