Factbites
 Where results make sense
About us   |   Why use us?   |   Reviews   |   PR   |   Contact us  

Topic: Aarskog syndrome


Related Topics

In the News (Sun 27 May 12)

  
  Aarskog syndrome: Encyclopedia of Genetic Disorders
Aarskog syndrome is an inherited disorder that causes a distinctive appearance of the face, skeleton, hands and feet, and genitals.
Aarskog syndrome is among the genetic disorders with distinctive patterns of physical findings and is confused with few others.
Aarskog syndrome is caused by mutations in the FGD1 gene, located on the short arm of the X chromosome (Xp11.2).
health.enotes.com /genetic-disorders-encyclopedia/aarskog-syndrome   (1136 words)

  
 Aarskog Syndrome
Aarskog syndrome is a rare inherited disorder characterized by characteristic facial, skeletal, and genital abnormalities.
Approximately 50 percent of individuals with Aarskog syndrome have spinal abnormalities such as incomplete closure of the bones of the spinal column (spina bifida occulta), fusion of the upper bones of the spinal column (cervical vertebrae), and underdevelopment of the “peg-like” projection of the second cervical vertebra (odontoid hypoplasia).
Aarskog syndrome is inherited as an X-linked recessive trait.
hw.healthdialog.com /kbase/nord/nord615.htm   (2265 words)

  
 Rare Pediatric Disease Database   (Site not responding. Last check: 2007-10-30)
Aarskog syndrome is a rare inherited disorder characterized by short height, muscular and skeletal irregularities, and problems in the genital area.
Aarskog syndrome is an X-linked disorder (the gene responsible for this disorder is found on the X chromosome), therefore it is more common in males.
Aarskog is a recessive disorder (meaning that both of the parents must pass along the gene to the child) caused by mutations in a gene called FGDY1, which is found on the X chromosome.
www.madisonsfoundation.org /content/3/1/display.asp?did=101   (450 words)

  
 Aarskog syndrome - Wikipedia, the free encyclopedia
Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies.
Aarskog syndrome is an x-linked recessive genetic disorder.
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
en.wikipedia.org /wiki/Aarskog_syndrome   (452 words)

  
 Indian Pediatrics - Editorial
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.
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.
www.indianpediatrics.net /april2002/april-400.htm   (241 words)

  
 AARSKOG SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
Aarskog syndrome is a rare inherited condition described in 1970 by Dr D Aarskog and Dr C I Scott in 1971.
Aarskog syndrome is associated with a wide range of features and not all features of the syndrome will be found in each individual; it affects individuals differently.
Aarskog syndrome is caused by mutations in the FGDY1 gene found on the X chromosome.
www.cafamily.org.uk /Direct/a03.html   (801 words)

  
 Aarskog-Scott syndrome
Aarskog syndrome or facio-digito-genital dysplasia is a rare X-linked condition associated with typical facial and digital features and shawl scrotum.
Shawl scrotum in children with short stature is characteristic of Aarskog syndrome but may not be seen in 20% cases.
The syndrome is caused by mutation in the FGD1 gene (faciogenital dysplasia type 1) that is mapped to Xp11.21.
www.orpha.net /static/GB/aarskogscott_syndrome.html   (229 words)

  
 Medical Dictionary: Aarskog syndrome - WrongDiagnosis.com
Aarskog syndrome: Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation.
Aarskog syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Aarskog syndrome, or a subtype of Aarskog syndrome, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /medical/aarskog_syndrome.htm   (204 words)

  
 Dagfinn Aarskog (www.whonamedit.com)
Dagfinn Aarskog studied medicine at the Universities of Oslo and Bergen, graduating from Bergen in 1956.
Aarskog became a licensed specialist in children’s diseases in 1964, and of medical genetics in 1974.
Aarskog was president of the European Society of Paediatric Endocrinology, honorary member of Finland's Barnläkareförening in 1900, and in 1991 of the Deutsche Gesellschaft für Kinderheilkunde.
www.whonamedit.com /doctor.cfm/351.html   (250 words)

  
 Lifespan's A - Z Health Information Library - Aarskog syndrome
Aarskog syndrome is an X-linked recessive genetic disorder (although some studies show it could possibly be an X-linked dominant disorder), therefore, mainly males are affected, although females may have a milder manifestation of some of the features.
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.
www.lifespan.org /adam/healthillustratedencyclopedia/1/001654.html   (398 words)

  
 Aarskog Syndrome
Aarskog syndrome is an extremely rare genetic disorder.
If you have Aarskog syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children.
Isolation, characterization and mapping of mouse Fgd3 gene, a new faciogenital dysplasia (FGD1; Aarskog Syndrome) gene homologue.
www.med.nyu.edu /patientcare/patients/library/article.html?ChunkIID=22572   (413 words)

  
 Aarskog syndrome -
A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
The subject of systematic classification of diseases is referred to as nosology.
www.medicalgeo.com /Med-Diseases-Aa---Al/Aarskog-syndrome.html   (313 words)

  
 [No title]
Aarskog Syndrome - Aarskog syndrome is a rare inherited disorder characterized by characteristic facial, skeletal, and genital abnormalities.
Aarskog's syndrome (www.whonamedit.com) - Aarskog's syndrome: A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities.
Causes, incidence, and risk factors: Aarskog syndrome is thought to be either an autosomal recessive or semi-dominant inherited disorder.
www.diseasedirectory.net /Genetic_Disorders/Aarskog_Syndrome/default.aspx   (481 words)

  
 Medical Dictionary: Aarskog-Scott syndrome - WrongDiagnosis.com
Aarskog-Scott syndrome: Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation.
Aarskog-Scott syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Aarskog-Scott syndrome, or a subtype of Aarskog-Scott syndrome, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /medical/aarskog_scott_syndrome.htm   (230 words)

  
 My grandson has Aarskog syndrome
Aarskog syndrome is a rare condition – only 100 or so cases are known worldwide.
There is no specific treatment for Aarskog syndrome but your grandson would be expected to have a normal lifespan and he should be able to attend mainstream school.
If they would like to find out if any other families in the UK have a child with Aarskog syndrome they could get in touch with the UK charity Contact a Family on 0808 808 3555.
www.netdoctor.co.uk /ate/childrenshealth/206296.html   (411 words)

  
 Aarskog-Scott syndrome definition - Medical Dictionary definitions of popular medical terms
Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and laxity of the ligaments resulting in bending back of the knees (genu recurvatum), flat feet, and overly extensible fingers.
The disease is named for DJ Aarskog (1928-) and CI Scott, Jr.
It is also known as Aarskog syndrome, faciodigitogenital dysplasia, and faciogenital dysplasia.
www.medterms.com /script/main/art.asp?articlekey=10440   (153 words)

  
 Aarskog Syndrome
Family Village - Aarskog Syndrome: Offers links for support and information concerning this disease.
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.
www.gourt.com /Health/Conditions-and-Diseases/Genetic-Disorders/Aarskog-Syndrome.html   (220 words)

  
 Aarskog-Scott Syndrome - WI, Milwaukee WI   (Site not responding. Last check: 2007-10-30)
Aarskog-Scott syndrome is an extremely rare genetic disorder.
The diagnosis of Aarskog-Scott syndrome is usually based on facial characteristics.
If you have Aarskog-Scott syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children.
www.columbia-stmarys.org /13584.cfm   (424 words)

  
 Aarskog Syndrome
Aarskog Syndrome may be confused with Robinow Syndrome
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').
Faciodigitogenitalt syndrom, Faciogenitalt - Sjukdom/skada/diahnos - Förekomst - Orsak till sjukdomen/skadan.
www.ibis-birthdefects.org /start/faciogen.htm   (139 words)

  
 Echocardiography   (Site not responding. Last check: 2007-10-30)
Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis Interact CardioVasc Thorac Surg 2005;4:47-48
We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome.
We propose that this combination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated.
www2.umdnj.edu /~shindler/aarskog.html   (144 words)

  
 Aarskog's syndrome (www.whonamedit.com)
Hypography is an open community about science and all things related
Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl (saddlebag) scrotum.
A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
www.whonamedit.com /synd.cfm/343.html   (226 words)

  
 Aarskog Syndrome / Library / The Family Village
The Aarskog Syndrome Parents Support Group's purpose is to educate the public about the features and possible delays or learning difficulties that may or may not effect some of children with Aarskog Syndrome and to offer support by mail or phone when needed.
The newsletter has a parent contact page for those wishing to get in touch with others who are affected by Aarskog.
There is an article file containing writings by doctors on this syndrome from genetic books.
www.familyvillage.wisc.edu /lib_aars.htm   (298 words)

  
 ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Aarskog syndrome   (Site not responding. Last check: 2007-10-30)
ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Aarskog syndrome
Aarskog syndrome is thought to be either an autosomal recessive or semi-dominant inherited disorder.
This disorder affects mainly males, although females may carry some of the features.
www.enlmedical.com /article/001654.htm   (212 words)

  
 Resource Library: Find information on Aarskog syndrome at MerckSource
The manufacture of a product generally has the most complete information about that product.
Please discuss any and all treatment options for your condition with your healthcare professional.
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at http://www.magicfoundation.org/.
www.mercksource.com /pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcnszSzcontentzSzadamzSzencyzSzarticlezSz001654zPzhtm   (492 words)

  
 AllRefer Health - Aarskog Syndrome Complications
You are here : AllRefer.com > Health > Diseases and Conditions > Aarskog Syndrome: Complications of Aarskog Syndrome
Some recent findings have included cystic changes in the brain and generalized seizures.
Aarskog Syndrome Overview, Causes, and Risk Factors
health.allrefer.com /health/aarskog-syndrome-complications.html   (271 words)

  
 Aarskog Syndrome - Synonyms, Augusta, Georgia, GA
Aarskog Syndrome - Synonyms, Augusta, Georgia, GA University Health Care System
To search for a specific phrase enclose that phrase in quotes.
Healthwise disclaims any liability for the decisions you make based on this information.
www.universityhealth.org /12836.cfm   (447 words)

  
 Aarskog Syndrome - SJMMC, Ann Arbor, Michigan MI
Aarskog Syndrome - SJMMC, Ann Arbor, Michigan MI Online Health Information
Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
To search for documents containing all of your keywords simply enter the words.
www.sjmercyhealth.org /12168.cfm   (372 words)

  
 Aarskog Syndrome
It is possible that the main title of the report Aarskog Syndrome is not the name you expected.
Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild mental retardation.
WebMD does not provide medical advice, diagnosis or treatment.
www.webmd.com /hw/raising_a_family/nord615.asp   (369 words)

  
 Open Directory - Health: Conditions and Diseases: Genetic Disorders: Aarskog Syndrome   (Site not responding. Last check: 2007-10-30)
Open Directory - Health: Conditions and Diseases: Genetic Disorders: Aarskog Syndrome
Top: Health: Conditions and Diseases: Genetic Disorders: Aarskog Syndrome
NORD: Aarskog Syndrome - A look at the alternate names, a general discussion and resources.
dmoz.org /Health/Conditions_and_Diseases/Genetic_Disorders/Aarskog_Syndrome   (111 words)

Try your search on: Qwika (all wikis)

Factbites
  About us   |   Why use us?   |   Reviews   |   Press   |   Contact us  
Copyright © 2005-2007 www.factbites.com Usage implies agreement with terms.