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         Aase Syndrome:     more detail
  1. Aase syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Scott, MS, CGC Polzin, 2005

1. MedlinePlus Medical Encyclopedia: Aase Syndrome
A definition of aase syndrome with a brief discussion on causes, incidence andrisk factors.
http://www.nlm.nih.gov/medlineplus/ency/article/001662.htm
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Medical Encyclopedia
Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
Aase syndrome
Contents of this page: Alternative names Aase-Smith syndrome Definition Return to top Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. Causes, incidence, and risk factors Return to top Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed. Symptoms Return to top
  • Mildly slowed growth Pale skin Delayed closure of fontanelles (soft spots) Narrow shoulders Triple-jointed thumbs, absent or small knuckles, decreased skin creases at finger joints Inability to fully extend the joints from birth (congenital contractures) Cleft palate Deformed ears Droopy eye lids
Signs and tests Return to top

2. NORD - National Organization For Rare Disorders, Inc.
A look at the alternate names, a general discussion and resources.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aase Syndrome

3. ? Aase Syndrome
A medical encycopedia article on the topic aase syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. MedlinePlus Medical Encyclopedia: Topics Beginning With A-Ag
A1C see HbA1c Aarskog syndrome aase syndrome; AaseSmith syndrome see Aasesyndrome Acute idiopathic polyneuritis see Guillain-Barre syndrome
http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_A-Ag.htm
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Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
Medical Encyclopedia Topics beginning with "A-Ag"

5. Aase-Smith Syndrome (www.whonamedit.com)
AaseSmith syndrome A familial deformity syndrome. Also known as Aase's syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Aase Syndrome
aase syndrome is a rare genetic disorder that may be detected during early infancy.The disorder is
http://my.webmd.com/hw/health_guide_atoz/nord106.asp
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Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Aase Syndrome Important It is possible that the main title of the report Aase 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
  • Aase-Smith Syndrome II Congenital Anemia and Triphalangeal Thumbs Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type
Disorder Subdivisions
  • None
General Discussion Aase syndrome is a rare genetic disorder that may be detected during early infancy. The disorder is primarily 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). In some instances, additional abnormalities may be present. The exact cause of Aase syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait. Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605

7. AASE Syndrome (Anemia Triphalangeal Thumbs)
aase syndrome (Anemia Triphalangeal Thumbs) aase syndrome. aase syndrome. AASE Triphalangeal Thumb; Congenital Anaemia. aase syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Index
Aarskog Syndrome AarskogScott Syndrome AAS aase syndrome Aase-SmithSyndrome II AAT AAT Deficiency. ^ back to top
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Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... AZ A A Beta-2-Microglobulin Amyloidosis back to top A1AT Deficiency back to top AA Aarskog Syndrome Aarskog-Scott Syndrome AAS Aase Syndrome ... back to top AB Abdominal Migraine Abdominal Muscle Deficiency Syndrome Abdominal Wall Defect Abercrombie Syndrome ... back to top AC ACADL ACADM Deficiency Acampomelic campomelic "Dysplasia" Acanthocheilonemiasis ... back to top AD Adamantiades-Behcet's Syndrome Adamantinoma Adams Oliver Syndrome Adapting to reduced vision from age-related macular degeneration ... back to top AE AE AEC Syndrome back to top AF AFD Afibrinogenemia, Congenital

9. MedlinePlus Medical Encyclopedia Aase Syndrome
A definition of aase syndrome with a brief discussion on causes, incidence and risk factors.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Aase Syndrome
aase syndrome is a rare genetic disorder that may be detected during early infancy. The disorder is primarily characterized by the presence of three
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. NORD - National Organization For Rare Disorders, Inc.
AIDS Dysmorphic Syndrome APECED Syndrome Aarskog Syndrome aase syndrome Ablepharon Macrostomia Syndrome Acanthocheilonemiasis Acanthocytosis
http://www.rarediseases.org/search/rdblist.html

Database Subscriptions

Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases. Index of Rare Diseases
This is the list of diseases currently covered in the Rare Disease Database.
Rare Disease Database

Search this database for reports on more than 1,150 diseases.
View sample report
Index of Organizations
This is the list of organizations in NORD's Organizational Database. Organizational Database
Read about more than 2,000 patient organizations and other sources of help. 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 Monday, September 05, 2005

12. Aase Syndrome
aase syndrome is a rare genetic disorder that may be detected during early infancy. The disorder is
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. AllRefer Health - Aase Syndrome (Aase-Smith Syndrome)
aase syndrome (AaseSmith Syndrome) information center covers causes, prevention,symptoms, diagnosis, treatment, incidence, risk factors, signs, tests,
http://health.allrefer.com/health/aase-syndrome-info.html

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Alternate Names : Aase-Smith Syndrome Definition Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
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Aase Syndrome Prevention

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... Calling Your Health Care Provider Topics that might be of interest to you Anemia Ventricular Septal Defect Bone Marrow Biopsy CBC ... Bone Marrow Transplant Other Topics Autosomal Recessive Cranial Sutures Paleness Review Date : 8/6/2003 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.

14. Aase Syndrome (Disease) - Detroit, Michigan
aase syndrome (Disease) courtesy of Henry Ford Health System of Detroit, Michigan
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. AllRefer Health - Aase Syndrome Symptoms & Signs (Aase-Smith Syndrome)
aase syndrome (AaseSmith Syndrome) information center covers Symptoms Signs.
http://health.allrefer.com/health/aase-syndrome-symptoms.html

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Aase Syndrome
Definition Prevention
Treatment

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Go To Main Page
Alternate Names : Aase-Smith Syndrome
  • Mildly slowed growth Pale skin Delayed closure of fontanelles (soft spots) Narrow shoulders Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints Inability to fully extend the joints from birth (congenital contractures) Cleft palate Deformed ears Droopy eye lids

Previous
Top Next
Jump to another section Definition
Aase Syndrome Prevention

Aase Syndrome Treatment

Aase Syndrome Prognosis
... Calling Your Health Care Provider Topics that might be of interest to you Anemia Ventricular Septal Defect Bone Marrow Biopsy CBC ... Bone Marrow Transplant Other Topics Autosomal Recessive Cranial Sutures Paleness Review Date : 8/6/2003 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.

16. Excite Italia - Aase Syndrome Genetic Disorders Conditions And
Directory Health Conditions and Diseases Genetic Disorders aase syndrome 3 siti nella categoria aase syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. ► Aase Syndrome
A medical encycopedia article on the topic aase syndrome.
http://www.umm.edu/ency/article/001662.htm
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Aase syndrome
Overview Symptoms Treatment Prevention Definition:
Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.
Alternative Names: Aase-Smith syndrome
Causes, incidence, and risk factors: Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
Review Date: 10/30/2001
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.

18. Aase Syndrome
aase syndrome is a rare, inherited disorder characterized by with some joint and skeletal deformities.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. ► Aase Syndrome
A medical encycopedia article on the topic aase syndrome.
http://www.umm.edu/ency/article/001662trt.htm
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Aase syndrome
Overview Symptoms Treatment Prevention Alternative Names:
Aase-Smith syndrome
Treatment: Frequent blood transfusions are given in the first year of life to treat anemia . Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.
Expectations (prognosis): Anemia usually resolves over the years.
Complications:
  • Complications related to anemia include weakness fatigue , and decreased oxygenation of the blood. Decreased white blood cells alter the body's ability to fight infection. If a heart defect exists, it may cause multiple complications (depending on the specific defect). Severe cases have been associated with still birth or early death.

Calling your health care provider: 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.

20. Dr. Koop - Aase Syndrome
aase syndrome is a rare, inherited disorder characterized by with some joint andskeletal deformities.
http://www.drkoop.com/ency/93/001662.html
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Aase syndrome
Definition: Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.
Alternative Names: Aase-Smith syndrome
Causes, incidence, and risk factors: Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
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