1. MedlinePlus Medical Encyclopedia: Aase Syndrome aase syndrome. Definition Return to top. aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. http://www.nlm.nih.gov/medlineplus/ency/article/001662.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Aase syndrome Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention 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 A CBC (complete blood count) will show anemia and a decrease in the white blood cell count An echocardiogram may reveal heart defects ( ventricular septal defect is most common).

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. Health Library - aase syndrome is a rare genetic disorder that may be detected during early infancy The exact cause of aase syndrome is unknown. However, most evidence suggests that the disorder is http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

4. ► Aase Syndrome A medical encycopedia article on the topic aase syndrome 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 http://www.umm.edu/ency/article/001662.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Department of Orthopaedics Home Medical Reference Encyclopedia (English) Toggle English Spanish 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. Home Health Info Our Physicians Our Services ... Contact Us UNIVERSITY OF MARYLAND MEDICINE © 2001 UNIVERSITY OF MARYLAND MEDICAL SYSTEM This site developed and maintained by Public Affairs.

5. Aase Syndrome 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 http://www.drkoop.com/ency/article/001662.htm

Advertisement Search Dr. Koop Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Subscribe to our Free Newsletter Health Encyclopedia ... Privacy Policy Advertisement Advertisement Disease Injury Nutrition Poison ... Prevention 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. 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. Advertisement Natural Medicine Center Atkins/Low Carb Diets Stress Test Free Eczema Information Kit Hiatal Hernia Mental Disorder Advertisement The drkoop.com URL and web site is not associated with

6. Medical Encyclopedia: Aase Syndrome (Print Version) Medical Encyclopedia aase syndrome. Definition. aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. http://www.nlm.nih.gov/medlineplus/print/ency/article/001662.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Aase syndrome URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001662.htm Alternative names Aase-Smith syndrome Definition Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. 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. Symptoms 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 A CBC (complete blood count) will show anemia and a decrease in the white blood cell count. An echocardiogram may reveal heart defects (ventricular septal defect is most common).

7. Pediatric Database A definition of aase syndrome,the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/AASESYND.HTM

8. Health Library - aase syndrome. Synonyms Disorder Subdivisions General Discussion Resources aase syndrome is a rare genetic disorder that may be detected during early infancy. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

9. Health Library - aase syndrome is a rare genetic disorder that may be detected during early infancy The exact cause of aase syndrome is unknown. However, most evidence suggests that the disorder is http://www.yalenewhavenhealth.com/Library/HealthGuide/IllnessConditions/topic.as

10. Aase Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders aase syndrome aase syndrome. NORD aase syndrome A look at the alternate names, a general discussion and resources. http://www.healthcyclopedia.com/genetic-disorders/aase-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > aase syndrome Aase Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Health News Web Directory: Related Topics: Chronic Illness Rare Disorders Health News: Search millions of published articles for news on Aase Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Adam.com: An Overview A definition of Aase syndrome with a brief discussion on causes, incidence and risk factors. NORD: Aase Syndrome A look at the alternate names, a general discussion and resources. Pediatric Database A definition of Aase syndrome,the epidemiology, pathogenesis, clinical features, investigations and management. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

11. 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 bones (phalanges) within the thumbs ( The exact http://www.peacehealth.org/kbase/nord/nord106.htm

var hwPrint=1;var hwDocHWID="nord106";var hwDocTitle="Aase Syndrome";var hwRank="1";var hwSectionHWID="nord106-Header";var hwSource="en-us6.1";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. 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

12. ORPHANET - Rare Diseases - Orphan Drugs aase syndrome is a very rare syndrome, characterized by hematological and comprises all malformations described in aase syndrome. Nevertheless, specific hematological findings http://orphanet.infobiogen.fr/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=917

13. ORPHANET - Rare Diseases - Orphan Drugs DISEASE aase syndrome, Synonym(s) Anemia triphalangeal thumbs, aase syndrome is a very rare syndrome, characterized by hematological and malformative defects. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=917

14. AllRefer Health - Aase Syndrome Complications (Aase-Smith Syndrome) aase syndrome (AaseSmith Syndrome) information center covers Complications. aase syndrome Overview, Causes, Risk Factors . aase syndrome Symptoms Signs . Aase http://www.1uphealth.com/health/aase_syndrome_complications.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Aase Syndrome : Complications of Aase Syndrome Aase Syndrome Definition Prevention Treatment Expectations or Prognosis Complications Calling Your Health Care Provider Go To Main Page Alternate Names : Aase-Smith Syndrome Aase Syndrome 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.

15. ORPHANET® Aase Syndrome D Aase est un syndrome très rare associant des anomalies hématologiques et malformatives. http://www.orpha.net/static/FR/aasesyndromed.html

16. 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

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Aase Syndrome Aase Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page 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. 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.

17. AllRefer Health - Aase Syndrome: Calling Your Health Care Provider (Aase-Smith S aase syndrome (AaseSmith Syndrome) information center covers Calling Your Health Care Provider. Health Care Provider. aase syndrome. http://health.allrefer.com/health/aase-syndrome-doctor.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Aase Syndrome : Calling Your Health Care Provider Aase Syndrome Definition Prevention Treatment Expectations or Prognosis ... Complications Calling Your Health Care Provider Go To Main Page Alternate Names : Aase-Smith Syndrome 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. Previous Top Next Jump to another section Definition Aase Syndrome Prevention Aase Syndrome Treatment Aase Syndrome Prognosis ... Aase Syndrome Complications 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.

18. Aase Syndrome aase syndrome is a rare genetic disorder that may be detected during early infancy. National Organization for Rare Disorders, Inc. aase syndrome. http://www.bchealthguide.org/kbase/nord/nord106.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord106"; var hwDocTitle="Aase Syndrome"; var hwRank="1"; var hwSectionHWID="nord106"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Aase Syndrome Important It is possible that the main title of the report 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 Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Blackfan-Diamond Anemia Fanconi's Anemia Holt-Oram Syndrome Thrombocytopenia-Absent Radius (TAR) Syndrome Associated Congenital Disorders (General) 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. Symptoms The primary findings associated with Aase syndrome include deficiency of red blood cells at birth (congenital hypoplastic anemia) and distinctive malformations of the thumbs.

19. ► Aase Syndrome aase syndrome. Calling your health care provider Call your health care provider if you notice possible signs of aase syndrome in your child. http://www.umm.edu/ency/article/001662trt.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Department of Orthopaedics Home Medical Reference Encyclopedia (English) Toggle English Spanish 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. 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.

20. Disease Directory : Genetic Disorders : Aase Syndrome Diseases Genetic Disorders aase syndrome. AASE (syndrome d’) Aase Blackfan-Diamond. aase syndrome - aase syndrome. Calling your http://www.diseasedirectory.net/Genetic_Disorders/Aase_Syndrome/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Aase Syndrome AASE (syndrome d’) - Aase (syndrome d’). Maladie rare, familiale et cong©nitale associant des pouces comportant trois phalanges avec une an©mie de type Blackfan-Diamond. Aase syndrome - Aase syndrome. Calling your health care provider: Call your health care provider if you notice possible signs of Aase syndrome in your child. Aase syndrome - Aase syndrome. Definition: Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. Alternative Names: Aase syndrome - Aase syndrome. Alternative Names: Calling your health care provider: Call your health care provider if you notice possible signs of Aase syndrome in your child. Aase Syndrome - Aase Syndrome. Disorder Subdivisions. None. General Discussion. Aase syndrome is a rare genetic disorder that may be detected during early infancy. Aase syndrome - Aase Syndrome. Adam.com: An Overview A definition of Aase syndrome with a brief discussion on causes, incidence and risk factors. Aase syndrome - Aase syndrome. Alternative Names: Aase-Smith syndrome. Symptoms: Mildly slowed growth; Pale skin; Delayed closure of fontanelles (soft spots); Narrow shoulders;

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