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Topic: Aase syndrome


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In the News (Sun 27 May 12)

  
  Aase syndrome: Encyclopedia of Genetic Disorders
Aase syndrome is a rare, autosomal recessive genetic disorder characterized by congenital hypoplastic anemia (CHA) and triphalangeal thumbs (TPT).
Several other physical abnormalities have been described in individuals with Aase syndrome, including narrow shoulders, hypoplastic radius (underdevelopment of one of the bones of the lower arm), heart defect, cleft lip/palate, and late closure of the fontanelles (soft spots on an infant's skull where the bones have not yet fused).
The specific cause of Aase syndrome is not known, but recurrence of the condition in siblings implies an abnormal gene is responsible.
health.enotes.com /genetic-disorders-encyclopedia/aase-syndrome   (765 words)

  
 Rare Pediatric Disease Database   (Site not responding. Last check: 2007-10-30)
Aase syndrome is a rare genetic disorder in which infants are born with anemia and joint and skeletal problems.
However, we do know that Aase syndrome is an autosomal dominant inherited disorder, which means that a child will develop the condition if he or she acquires one abnormal copy of a gene from either parent.
Also, the anemia that is associated with Aase syndrome is caused by an underdevelopment of bone marrow, which is the soft center of bones where the blood cells are made.
www.madisonsfoundation.org /content/3/1/display.asp?did=236   (523 words)

  
 Aase Syndrome - Health Topics - Medical Encyclopedia - MSN Health & Fitness   (Site not responding. Last check: 2007-10-30)
It is possible that the main title of the report Aase Syndrome is not the name you expected.
Aase syndrome is a rare genetic disorder that may be detected during early infancy.
The exact cause of Aase syndrome is unknown.
health.msn.com /encyclopedia/healthtopics/articlepage.aspx?cp-documentid=100073842   (403 words)

  
 Jon Morton Aase (www.whonamedit.com)
Jon Morton Aase is reckoned as the pre-eminent authority on the foetal alcohol syndrome, the most common cause of mental deficiency.
Aase is the author or co-author of over forty-five articles in the area of dysmorphology.
He developed the FAS Clinical Checklist and Screening Protocol for the Centers for Disease Control, and in early 2000 was conducting a Study of the Epidemiology of FAS in New Mexico for the Centers for Disease Control.
www.whonamedit.com /doctor.cfm/334.html   (295 words)

  
 Aase syndrome - Evanston Northwestern Healthcare   (Site not responding. Last check: 2007-10-30)
Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.
Call your health care provider if you notice possible signs of Aase syndrome in your child.
Genetic counseling is recommended if there is a family history of Aase syndrome.
www.enh.org /healthandwellness/encyclopedia/ency/article/001662.aspx   (390 words)

  
 [No title]
Aase syndrome Information Diseases Database - Aase syndrome: may cause or feature + (Follow link for list); belong(s) to the category of + (Follow link for list).
Synonyms Disorder Subdivisions General Discussion Resources Aase syndrome is a rare genetic disorder that may be detected during early infancy.
Causes, incidence, and risk factors: Aase syndrome is thought to be an autosomal recessive inherited disorder.
www.diseasedirectory.net /Genetic_Disorders/Aase_Syndrome/default.aspx   (520 words)

  
 Aase-Smith syndrome (www.whonamedit.com)
A familial deformity syndrome of variable expressivity, characterised by congenital hypoplastic anaemia and connatal triphalangy of the thumbs.
The syndrome was originally described in two male siblings.
Congenital anemia and triphalangeal thumbs: a new syndrome.
www.whonamedit.com /synd.cfm/1858.html   (150 words)

  
 Medical Dictionary: Aase syndrome - WrongDiagnosis.com
Aase syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Aase syndrome, or a subtype of Aase syndrome, affects less than 200,000 people in the US population.
They list Aase syndrome as a "rare disease".
www.wrongdiagnosis.com /medical/aase_syndrome.htm   (189 words)

  
 Medical Dictionary: Aase Smith syndrome - WrongDiagnosis.com
Aase Smith syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Aase Smith syndrome, or a subtype of Aase Smith syndrome, affects less than 200,000 people in the US population.
They list Aase Smith syndrome as a "rare disease".
www.wrongdiagnosis.com /medical/aase_smith_syndrome.htm   (194 words)

  
 Aase Syndrome
Gourt :: Health :: Conditions and Diseases :: Genetic Disorders :: Aase Syndrome
Aase Syndrome: A definition with a brief discussion on causes, incidence and risk factors.
NORD: Aase Syndrome: A look at the alternate names, a general discussion and resources.
www.gourt.com /Health/Conditions-and-Diseases/Genetic-Disorders/Aase-Syndrome.html   (209 words)

  
 Aase-Smith syndrome I definition - Medical Dictionary definitions of popular medical terms
Aase-Smith syndrome I: A syndrome of congenital malformations (birth defects) characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures).
Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability to open the mouth fully, heart defects, and clubfoot.
The syndrome is inherited as an autosomal dominant trait, transmitted from generation to generation, affecting both males and females.
www.medterms.com /script/main/art.asp?articlekey=17546   (144 words)

  
 Aase-Smith Syndrome II - Talk Medical
Aase-Smith syndrome II: A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia).
The syndrome is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith.
Alternative names for the syndrome include: Anemia and triphalangeal thumbs Congenital anemia and triphalangeal thumbs Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.
www.talkmedical.com /medical-dictionary/18/Aase-Smith-Syndrome-II   (133 words)

  
 ORPHANET® : Base de données sur les maladies rares et les médicaments orphelins
Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
Aortic aneurysm syndrome, due to TGFbêta receptors anomalies
APECED syndrome (Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome)
www.orpha.net /Pat/GBA.html   (175 words)

  
 [No title]
All Reference Health: Aase Syndrome - Obtain an overview of the disorder's causes, symptoms and treatment.
Medline Plus: Aase Syndrome - Presents definitions and images plus causes, incidence and risk factors.
University of Maryland: Aase Syndrome - Serves definitions and causes plus illustrations and corrective procedures.
botw.org /top/Health/Conditions_and_Illness/Genetic_Disorders/Aase_Syndrome   (126 words)

  
 Disease - Aase syndrome - Hartford, Connecticut CT
Disease - Aase syndrome - Hartford, Connecticut CT About Us
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
To search for documents containing all of your keywords simply enter the words.
www.saintfranciscare.com /1912.cfm   (402 words)

  
 AllRefer Health - Aase Syndrome Complications (Aase-Smith Syndrome)
You are here : AllRefer.com > Health > Diseases and Conditions > Aase Syndrome: Complications of Aase Syndrome
Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.
Aase Syndrome Overview, Causes, and Risk Factors
health.allrefer.com /health/aase-syndrome-complications.html   (298 words)

  
 ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Aase syndrome
ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Aase syndrome
Aase syndrome is thought to be an autosomal recessive inherited disorder.
If a heart defect exists, it may cause multiple complications (depending on the specific defect).
www.enlmedical.com /article/001662.htm   (178 words)

  
 DaytonDailyNews: Dayton, Ohio, news and information
home > Disease > A > Aase syndrome
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
You may wish to note our other business policies.
www.daytondailynews.com /health/healthfd/shared/health/adam/ency/article/001662.html   (151 words)

  
 Open Directory - Health: Conditions and Diseases: Genetic Disorders: Aase Syndrome
Top: Health: Conditions and Diseases: Genetic Disorders: Aase Syndrome
Aase Syndrome - A definition with a brief discussion on causes, incidence and risk factors.
NORD: Aase Syndrome - A look at the alternate names, a general discussion and resources.
dmoz.org /Health/Conditions_and_Diseases/Genetic_Disorders/Aase_Syndrome   (81 words)

  
 Aase-Smith syndrome II definition - Medical Dictionary definitions of popular medical terms
Aase-Smith syndrome II definition - Medical Dictionary definitions of popular medical terms
Definition of Aase-Smith syndrome II Aase-Smith syndrome II: A genetic disorder that may be detected during early infancy and is characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia).
The exact cause of the syndrome is unknown.
www.medterms.com /script/main/art.asp?articlekey=15593   (137 words)

  
 Aase-Smith syndrome
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Alternative names Aase syndrome Definition Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.
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