21. Aarskog Syndrome Articles, Support Groups, And Resources aarskog syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). aarskog syndrome. http://www.medhelp.org/HealthTopics/Aarskog_Syndrome.html

[Health Topics A-Z] A B C D ... Z Aarskog Syndrome Support Groups: Aarskog Syndrome Family Support Group [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

22. Aarskog Syndrome Tips for printing. aarskog syndrome Note! aarskog syndrome may be confusedwith Robinow Syndrome. Special Resources SOS Ask experts http://ibis-birthdefects.org/start/faciogen.htm

Tips for printing Aarskog Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources Aarskog - Like Syndrome Aarskog - Scott Syndrome Faciodigitogenital Syndrome Faciodigitogenitalt Syndrom Faciogenital Dysplasia Faciogenitalt Syndrom FGDY Kuwait Type Faciodigitogenital Syndrome Note! Aarskog Syndrome may be confused with Robinow Syndrome Special Resources Aarskog Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Swedish] [*][P] Faciogenital Dysplasia (from OMIM) Gene Map Locus: Xp11.21 - Aarskog (1970) described an X linked disorder characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal relations ('saddle bag scrotum' or 'shawl scrotum'). Affected males can reproduce - Scott (1971) emphasized the occurrence of ligamentous laxity manifest by hyperextensibility of the fingers, genu recurvatum, and flat feet - Tyrkus et al (1980) described mother and son with Aarskog Scott syndrome - Expression was complete in the mother - The mother and son had a reciprocal translocation between the X chromosome and chromosome 8 - Fryns (1992) concluded that the incidence of mental handicap in Aarskog syndrome may be as high as 30%.

23. Robinow Syndrome Note! Robinow Syndrome may be confused with aarskog syndrome. Special ResourcesSOS Ask experts or consultants for information Robinow Syndrome. http://ibis-birthdefects.org/start/robin.htm

Tips for printing Robinow Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Mesomelia Robinow Dwarfism Robinow Syndrome Note! Robinow Syndrome may be confused with Aarskog Syndrome Special Resources Robinow Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Danish] [Dutch] [Ukrainian] [*][P] Robinow Syndrome (from OMIM) Robinow et al (1969) described a short stature syndrome in 6 generations of a family but with no instance of male to male transmission - Interorbital distance was increased and the teeth were malaligned - Achondroplasia was suggested; however, the spine and pelvic radiologic findings were nearly normal - Similarities to the Aarskog Scott syndrome (305400) were noteworthy - Friedman ((1985) described the distinctive umbilical changes of Aarskog syndrome, Rieger syndrome (180500), and Robinow syndrome. [*][P] Robinow Syndrome, Recessive Form

24. Health Ency.: Disease: Aarskog Syndrome aarskog syndrome See images. Causes and Risks. aarskog syndrome is anxlinked recessive genetic disorder. This disorder affects mainly http://www.accessatlanta.com/shared/health/adam/ency/article/001654.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease A Aarskog syndrome See images Overview Symptoms Treatment ... Prevention Definition: An inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes and Risks Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. Ency. home Disease A Please read this Important notice Also Check Out Subscribe to The Atlanta Journal-Constitution Home Autos Classifieds ... Our Sponsors By using AccessAtlanta.com you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile

25. Health Ency.: Disease: Aarskog Syndrome aarskog syndrome See images. Seek genetic counseling if there is Aarskogsyndrome in your family. Seek evaluation by a geneticist http://www.accessatlanta.com/shared/health/adam/ency/article/001654trt.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease A Aarskog syndrome See images Overview Symptoms Treatment ... Prevention Treatment Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder. Prognosis Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility. Complications Some recent findings have included cystic changes in the brain and generalized seizures . There may be difficulty growing in the first year of life in up to one third of cases. Mis-aligned teeth may require orthodontic correction. An undescended testicle will require surgery. Call Your Health Care Provider If: Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here. Seek genetic counseling if there is Aarskog syndrome in your family. Seek evaluation by a geneticist if your doctor thinks you or your child may have Aarskog syndrome. Ency. home

26. Aarskog Syndrome Parents Support Group Return to Search Page aarskog syndrome Parents Support Group. 62 Robin Hill LaneLevittown, PA 190551411 Conditions aarskog syndrome. Hours Answered 24 hours http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Aars

27. NORD - National Organization For Rare Disorders, Inc. aarskog syndrome. To purchase fulltext report ($7.50) Copyright 1989, 1990,1994, 1995, 1996 Synonyms of aarskog syndrome AAS; Aarskog-Scott Syndrome; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aarskog Syndr

28. NORD - National Organization For Rare Disorders, Inc. 5 Oxoprolinuria ACTH Deficiency AIDS (Acquired Immune Deficiency Syndrome) AIDSDysmorphic Syndrome APECED Syndrome aarskog syndrome Aase Syndrome Ablepharon http://www.rarediseases.org/search/rdblist.html

Search NORD's Databases NORD maintains three searchable databases and an alphabetical index of disease names. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Organizational Database Find a support group or other source of help. Orphan Drug Designation Database Find out about new and experimental orphan products. Database Subscriptions Subscriptions provide complete access to NORD's databases at libraries, schools, universities, and hospitals. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. 5 Oxoprolinuria ACTH Deficiency AIDS (Acquired Immune Deficiency Syndrome) AIDS Dysmorphic Syndrome ... HOME Last modified Sunday, February 02, 2003

29. Aarskog Syndrome Support Group (U.K.) aarskog syndrome Support Group http://www.aarskoginfo.co.uk/

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30. ILDS: ICD-10 - By Disorder [Aarskog Syndrome - Addison's Keloid] Alphabetized by Disorder, aarskog syndrome Addison's keloid Return to Alphabeticallisting ICD Code Disorder, Q87100 aarskog syndrome, http://www.ilds.org/icd10/bydisorder/A-01.html

Application to Dermatology of ICD-10 Alphabetized by Disorder, Aarskog syndrome - Addison's keloid: Return to Alphabetical listing... ICD Code: Disorder Aarskog syndrome Abdominal actinomycosis Aberrant breast Aberrant nipple Aberrant sebaceous glands of female genitalia Aberrant sebaceous glands of male genitalia Aberrant sebaceous glands of mouth Abnormal hair colour (NOS) Abnormal hair shaft (NOS) Abnormal palmar creases Abnormal vertebral defect affecting skin Abnormality of skin with spina bifida Abrasion Abrikossoff's tumor Abscess (NOS) Abscess amebic of skin Abscess Bartholin's gland Abscess cold due to tuberculosis Abscess ischiorectal Abscess lymph node (NOS) Abscess metastatic Abscess operative wound Abscess phagadenic Abscess pilonidal Abscess stitch Abscess sweat gland apocrine Abscess sweat gland eccrine Abscess vulva Absence cold sensation Absence heat sensation Absent breast with nipple present Absent nipple ABT Letterer-Siwe syndrome Acanthocheilonemiasis Acantholysis (NOS) Acantholysis bullosa Acantholytic dermatosis transient Acantholytic nevus Acanthoma clear cell Acanthoma Degos Acanthoma fissuratum Acanthoma pale cell Acanthoma spectacle frame Acanthosis benign Acanthosis congenital Acanthosis nigricans primary Acanthosis nigricans secondary Acanthosis palmaris Acanthosis seborrheic Acariasis (NOS) Acariasis due to scabies Acarine dermatitis Acarophobia Accessory auricle Accessory breast Accessory digit (NOS) Accessory finger(s) Accessory nipple

31. Aarskog Syndrome : Meddie Health Search ITEMS LINKS Human Genome Mapping Project A list of features for Aarskogsyndrome. (Rating 0.00 Votes 0) Rate It. National Library http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Aa

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Aarskog Syndrome ITEMS: LINKS: Human Genome Mapping Project A list of features for Aarskog syndrome. (Rating: 0.00 Votes: 0) Rate It National Library of Medicine Aarskog syndrome, the synonyms, a summary and a list of the major features. (Rating: 0.00 Votes: 0) Rate It OMIM: National Center for Biotechnology Information Clinical synopsis for Aarskog syndrome. (Rating: 0.00 Votes: 0) Rate It Pediatric Database A definition of Aarskog syndrome and the epidemiology, pathogenesis, clinical features, investigations and management. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

32. ThirdAge - Adam - Aarskog Syndrome aarskog syndrome. Definition An Causes, incidence, and risk factorsaarskog syndrome is an xlinked recessive genetic disorder. This http://www.thirdage.com/health/adam/ency/article/001654.htm

document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... Prevention Aarskog syndrome Definition: An inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes, incidence, and risk factors: Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. The face Simian crease Pectus excavatum Review Date: 2/11/2002 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. TOP CLICKS Memory Loss Smallpox Flu Shot Anthrax ... Depression document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>');

33. ThirdAge - Adam - Aarskog Syndrome aarskog syndrome. Symptoms mild to moderate short stature whichmay not be obvious until the child is between 1 and 3 years old; http://www.thirdage.com/health/adam/ency/article/001654sym.htm

document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... Prevention Aarskog syndrome Symptoms: mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old possible delayed sexual maturation rounded face hairline has a "widow's peak" wide set eyes with droopy eyelids small nose with nostrils tipped forward underdeveloped mid-portion of the face wide groove above the upper lip, crease below the lower lip delayed eruption of teeth top portion of the ear folded over slightly small, broad hands and feet with short fingers and in-curving 5th finger short fingers and toes with mild webbing simian crease (single) in palm of hand protruding umbilicus (navel) inguinal hernias "shawl" scrotum , undescended testicles mild to moderate mental deficiency downward palpebral slant - eye pectus excavatum , mildly concave sternum Signs and tests: X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.

34. Health Library - Aarskog Syndrome aarskog syndrome. None. General Discussion. aarskog syndrome is an extremelyrare genetic disorder marked by distinctive structural abnormalities. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

35. Health Library - Aarskog Syndrome aarskog syndrome. None. General Discussion. aarskog syndrome is an extremelyrare genetic disorder marked by distinctive structural abnormalities. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

36. 1Up Health > Aarskog Syndrome > Causes, Incidence, And Risk Factors Of Aarskog S Comprehesive information on aarskog syndrome . 1Up Health Diseases Conditions aarskog syndrome Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/aarskog_syndrome_info.html

1Up Health Aarskog syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Aarskog syndrome Information Aarskog syndrome Causes, Incidence, and Risk Factors Definition : Aarskog syndrome is an inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes, Incidence, and Risk Factors Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. Previous Next Jump to Another Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention Diagnosis, Signs, and Tests Treatment ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Review Date Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Guide Definition Causes, Incidence, and Risk Factors

37. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Sites. Drkoop.com Medical Encyclopedia aarskog syndrome Looks at the causes,risk factors, symptoms, diagnosing, treatment, prognosis and complications. http://www.1uphealth.com/links/genetic-disorders-aarskog-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 : Aarskog Syndrome Description See Related Categories Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Rare Disorders Sites Drkoop.com: Medical Encyclopedia: Aarskog Syndrome Looks at the causes, risk factors, symptoms, diagnosing, treatment, prognosis and complications. Family Village - Aarskog Syndrome Offers links for support and information concerning this disease. Human Genome Mapping Project A list of features for Aarskog syndrome. National Library of Medicine Aarskog syndrome, the synonyms, a summary and a list of the major features. NORD - Aarskog Syndrome A look at the alternate names, a general discussion and resources. OMIM: National Center for Biotechnology Information Clinical synopsis for Aarskog syndrome. Pediatric Database A definition of Aarskog syndrome and the epidemiology, pathogenesis, clinical features, investigations and management.

38. Indian Pediatrics - Editorial aarskog syndrome. This child is a typical case of aarskog syndrome withall the primary and most of the secondary diagnostic criteria. http://www.indianpediatrics.net/april2002/april-400.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2002; 39:400 Aarskog Syndrome Fig. 1 ). His ears were low set with overfolded margins. He had a crease below the lip. Hands were small with characteristic swan neck deformity of fingers due to hyperextension at proximal inter-phalangeal joints and flexion at distal interphalangeal joints ( Fig. 2 ). He had shawl scrotum and was in stage II of sexual maturity scale. Echocardiogram and routine blood tests were normal. This child is a typical case of Aarskog syndrome with all the primary and most of the secondary diagnostic criteria. Aarskog Syndrome is a common syndrome of proportionate short stature described by Aarskog in 1970. The facial dysmorphic features are subtle but together give a characteristic appearance. Shawl scrotum without hypoplastic genitalia in a child with short stature is quite diagnostic of Aarskog syndrome but may be absent in 20% of cases and the appearance is lost in postpubertal boys. Most patients are of normal or low normal intelligence, however, mild and moderate mental retardation may be present in upto 30% of cases. Height initially is less than third centile, but there is usually some catch-up growth during puberty, which may be delayed in some cases. Aarskog syndrome is an X linked disorder and the responsible gene is faciogenital dysplasia (FGD1) gene on Xp11.21.

39. Avera Health - Aarskog Syndrome aarskog syndrome. aarskog syndrome is an inherited disease characterized by shortstature, facial abnormalities, musculoskeletal, and genital anomalies. http://www.avera.org/adam/ency/article/001654.htm

Disease Injury Nutrition Poison ... Pectus excavatum Aarskog syndrome Definition: Aarskog syndrome is an inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes, incidence, and risk factors: Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. Symptoms: mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old possible delayed sexual maturation rounded face hairline has a "widow's peak" wide set eyes with droopy eyelids small nose with nostrils tipped forward underdeveloped mid-portion of the face wide groove above the upper lip, crease below the lower lip delayed eruption of teeth top portion of the ear folded over slightly small, broad hands and feet with short fingers and in-curving 5th finger short fingers and toes with mild webbing simian crease (single) in palm of hand protruding umbilicus (navel) inguinal hernias "shawl" scrotum , undescended testicles mild to moderate mental deficiency downward palpebral slant - eye pectus excavatum , mildly concave sternum Signs and tests: X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.

40. Birth Disorder Information Directory - W HOME W. W Syndrome See (Pallister) W Syndrome. Waaler aarskog syndrome(Hydrocephalus with Costovertebral Dysplasia and Sprengel Anomaly) http://www.bdid.com/defectw.htm

HOME W W Syndrome See (Pallister) W Syndrome Waaler Aarskog Syndrome (Hydrocephalus with Costovertebral Dysplasia and Sprengel Anomaly) Waaler aarskog syndrome BASAL CELL NEVUS SYNDROME; BCNS Waardenburg Syndrome List of Sites -(Recessive) Anophthalmia Syndrome See Waardenburg Syndrome, Type III -Shah Syndrome See Waardenburg Syndrome, Type IV with Hirschsprung Disease See Waardenburg Syndrome, Type IV Wagner Syndrome (Erosive Vitreoretinopathy, Hyaloideoretinal Degeneration of Wagner, Wagner Vitreoretinal Degeneration) HYALOIDEORETINAL DEGENERATION OF WAGNER Wagner disease WAGR Syndrome See Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) Syndrome Walbaum Titran Durieux Crepin Syndrome (Fibular Hypoplasia with Scapulo Pelvic Dysplasia and Absent 5th Fingers) Walbaum titran durieux crepin syndrome Walker Dyson Syndrome (Aniridia-Mental Retardation Syndrome) Aniridia mental retardation syndrome Walker Warburg Syndrome (Cerebroocular Dysgenesis; Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; Chemke Syndrome; COD-MD Syndrome; Hard +/- E Syndrome; H ydrocephalus

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