1. MEDLINEplus Medical Encyclopedia: Aase Syndrome A definition of aase syndrome with a brief discussion on causes, incidence and risk factors.Category Health Conditions and Diseases aase syndrome......aase syndrome. Definition Return to top aase syndrome is a rare, inherited disordercharacterized by anemia with some joint and skeletal deformities. http://www.nlm.nih.gov/medlineplus/ency/article/001662.htm

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

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 5/05/94 AASE SYNDROME DEFINITION: A disorder characterized by congenital hypoplasic anemia and triphalangeal thumbs. EPIDEMIOLOGY: incidence: rare age of onset: newborn (anemia) risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: 1. Background one of at least 3 autosomal recessive syndromes associated with hematopoietic and skeletal anomalies other syndromes: Fanconi Anemia Thrombocytopenia-Absent Radius (TAR) Syndrome etiology is unknown but is considered to be one of at least 3 disorders where there is a congenital deficiency in erythroid precursors other congenital single cytopenias: Diamond-Blackfan Syndrome Congenital Dyserythropoietic Anemia CLINICAL FEATURES: 1. Anemia onset in newborn period but tends to improve with age pallor and lethargy 2. Musculoskeletal Manifestations short stature triphalangeal thumbs with mild radial hypoplasia narrow shoulders late closure of fontanelles 3. Others cardiac anomalies - VSD INVESTIGATIONS: 1. Serum

3. Aase-Smith Syndrome (www.whonamedit.com) Learn about this disease, also known as aase syndrome. Includes the synonyms, the associated persons, and a description. AaseSmith syndrome. Also known as Aases syndrome. Synonyms Anaemia-congenital triphalangeal thumb syndrome, http://www.whonamedit.com/synd.cfm/1858.html

Home List categories Eponyms A-Z Biographies by country ... Contact Aase-Smith syndrome Also known as: Aase’s syndrome Synonyms: Anaemia-congenital triphalangeal thumb syndrome, anaemia-triphalangeal thumb syndrome, distal arthrogryposis type IIB syndrome, syndrome of joint contractures with other abnormalities, triphalangeal thumb-hypoplastic anaemia syndrome, triphalangeal thumb syndrome. Associated persons: Jon Morton Aase David Weyhe Smith Description: A familial deformity syndrome of variable expressivity, characterised by congenital hypoplastic anaemia and connatal triphalangy of the thumbs. Other features may be hydrocephalus with Dandy-Walker anomaly, cleft palate, and multiple contractures of the joints, narrow shoulders. Occur in males; present from birth. The syndrome was originally described in two male siblings. Some writers consider this and the Diamond-Blackfan syndrome to be the same entity. Inheritance is probably autosomal recessive. Bibliography: J. M Aase, D. W. Smith: Congenital anemia and triphalangeal thumbs: a new syndrome. Journal of Pediatrics, St. Louis, 1969, 74: 471-474.

4. NORD - Aase Syndrome A look at the alternate names, a general discussion and resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

5. MEDLINEplus Medical Encyclopedia: Topics Beginning With A-Ag beginning with AAg . A/P repair see Anterior vaginal wall repair; Aarskogsyndrome; aase syndrome; Aase-Smith syndrome see aase syndrome; http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_A-Ag.htm

Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Medical Encyclopedia Topics beginning with "A-Ag" A/P repair see Anterior vaginal wall repair Aarskog syndrome Aase syndrome Aase-Smith syndrome see Aase syndrome AAT deficiency see Alpha-1 antitrypsin deficiency AAT or A1AT see Alpha-1 antitrypsin Abacterial cystitis see Cystitis - noninfectious (acute urethral syndrome) Abdomen - swollen Abdominal aortic aneurysm Abdominal birth see C-section Abdominal bloating Abdominal cramps see Abdominal pain Abdominal CT scan Abdominal delivery see C-section Abdominal discomfort see Abdominal distress Abdominal distention see Abdomen - swollen Abdominal distress Abdominal exploration Abdominal film ... Abdominal girth Abdominal hernia see Lump in the abdomen Abdominal hysterectomy see Hysterectomy Abdominal mass Abdominal MRI Abdominal pain ... Abdominal pain diagnosis Abdominal pregnancy see Ectopic pregnancy Abdominal rigidity Abdominal sonogram see Abdominal ultrasound Abdominal sounds Abdominal tap - paracentesis Abdominal thrusts see Heimlich maneuver Abdominal ultrasound Abdominal wall biopsy see Abdominal wall fat pad biopsy Abdominal wall defect repair see Gastroschisis repair Abdominal wall defects see Lump in the abdomen Abdominal wall fat pad biopsy Abdominal wall surgery Abdominal X-ray see Abdominal film Abdominoplasty see Abdominal wall surgery Abducens palsy see Cranial mononeuropathy VI Abetalipoproteinemia see Bassen-Kornzweig syndrome ABG see Blood gases Ablatio placentae see Placenta abruptio Abnormal breast mass see Lumps in the breasts Abnormal heart rhythms see

6. TAR SYNDROME A definition of TAR syndrome, the epidemiology, pathogenesis, clinical features, investigations and Category Health Conditions and Diseases...... hematopoietic and skeletal anomalies aase syndrome; Fanconi Anemia.one of at least 4 disorders associated with radial agenesis http://www.icondata.com/health/pedbase/files/TARSYNDR.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 4/13/94 TAR SYNDROME DEFINITION: Thrombocytopenia-Absent Radii (TAR) Syndrome is characterized by the neonatal onset of thrombocytopenia and bilateral absence or hypoplasia of the radii with normal thumbs. EPIDEMIOLOGY: incidence: rare age of onset: thrombocytopenia within first 4 months of life risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: one of at least 3 autosomal recessive syndromes associated with hematopoietic and skeletal anomalies: AASE Syndrome Fanconi Anemia one of at least 4 disorders associated with radial agenesis: Baller-Gerold Syndrome Fanconi Anemia Holt-Oram Syndrome VATER Association CLINICAL FEATURES: 1. Thrombocytopenia onset in newborn period but tends to improve with age episodes precipitated by stress, infections, surgery, and cow's milk allergy bloody stool hematemesis hemorrhage intracranial bleeds nosebleeds purpura 2. Musculoskeletal Manifestations short stature radii - bilateral hypoplasia or aplasia with normal thumbs ulnae - hypoplasia or aplasia defects of hands, legs, and/or feet

7. Avera Health - Aase Syndrome aase syndrome is thought to be an autosomal dominant inherited disorder. http://www.avera.org/adam/ency/article/001662.htm

Disease Injury Nutrition Poison ... Z 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. 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 will show anemia and a decrease in the white blood cell count An echocardiogram may reveal heart defects ( ventricular septal defect is most common). X-rays will show skeletal abnormalities as described above. A bone marrow biopsy may be performed. 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

8. NORD - National Organization For Rare Disorders, Inc. aase syndrome. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright1986, 1990, 1993, 2000 Synonyms of aase syndrome Aase-Smith Syndrome II; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aase Syndrome

9. Aase Syndrome Disease Injury Nutrition Poison Special Topic Surgery Symptoms Test 2 4 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Overview Symptoms Treatment Prevention aase syndrome Definition aase syndrome is a rare, inherited disorder characterized http://www.iowaclinic.com/adam/ency/article/001662.shtml

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: 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 Introduction Specialties and Locations Bill Payment Online ... Health Library

10. NORD - National Organization For Rare Disorders, Inc. ACTH Deficiency AIDS (Acquired Immune Deficiency Syndrome) AIDS Dysmorphic SyndromeAPECED Syndrome Aarskog Syndrome aase syndrome Ablepharon Macrostomia 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

11. Aase Syndrome aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities aase syndrome. Alternative names AaseSmith syndrome http://www.iowaclinic.com/adam/ency/article/001662trt.shtml

Disease Injury Nutrition Poison ... Prevention Aase syndrome 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.

12. Health Library - Aase Syndrome aase syndrome. Synonyms Disorder Subdivisions General Discussion Resources aase syndromeis a rare genetic disorder that may be detected during early infancy. http://yalenewhavenhealth.org/Library/HealthGuide/IllnessConditions/topic.asp?hw

13. Health Library - Aase Syndrome aase syndrome. Synonyms Disorder Subdivisions General Discussion Resources aase syndromeis a rare genetic disorder that may be detected during early infancy. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

14. Aase Syndrome Causes and Risks aase syndrome is thought to be an autosomal dominant inherited disorder. http://www.rwjhamilton.org/Atoz/Encyclopedia/article/001662.asp

For a complete list of hospital classes and events, click here to connect to HealthConnection Online Medical Encyclopedia Encyclopedia Disease A -> Aase syndrome Aase syndrome Alternate Names: Aase-Smith syndrome Causes and Risks: Aase syndrome is thought to be an autosomal recessive inherited disorder. 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 Signs and Tests: A CBC will show anemia and a decrease in the white blood cell count An echocardiogram may reveal heart defects ( ventricular septal defect is most common). X-rays will show skeletal abnormalities as described above. A bone marrow biopsy may be performed. 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. Prognosis: Anemia usually resolves over the years.

15. AASE Syndrome (Anemia Triphalangeal Thumbs) HOME aase syndrome (Anemia Triphalangeal Thumbs). aase syndrome; AaseSyndrome; AASE Triphalangeal Thumb; Congenital Anaemia; aase syndrome; http://www.bdid.com/aase.htm

HOME AASE Syndrome (Anemia Triphalangeal Thumbs) Aase syndrome Aase Syndrome AASE - Triphalangeal Thumb; Congenital Anaemia AASE Syndrome ... aase@yahoogroups.com (mailing list) HOME

16. Birth Disorder Information Directory - A aase syndrome (Anemia with Triphalangeal Thumbs) List of Sites. AASE SmithSyndrome (Hydrocephalus with Cleft Palate and Joint Contractures) http://www.bdid.com/defectaa.htm

HOME Aa-Af Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Cholestasis with lymphedema (Aagenaes syndrome) Aagenaes* Syndrom Aagenaes aagenaes syndrome ... Aagenaes* Syndrom Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) List of Sites Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog like syndrome FACIODIGITOGENITAL SYNDROME, RECESSIVE Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) Aarskog ose pande syndrome LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES MELLITUS AASE Syndrome (Anemia with Triphalangeal Thumbs) List of Sites AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) AASE-Smith - Hydrocephalus; Cleft Palate; Joint Contractures AASE-SMITH SYNDROME AASE Smith Aase-Smith syndrome ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) abcd syndrome ABCD SYNDROME Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdallat (1980) - Neurocutaneous Syndrome SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES abdallat davis farrage syndrome abdallat davis farrage syndrome Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome See Prune Belly Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) List of Sites Ablepharon -Ichthyosis Syndrome Ablepharon-Ichthyosis -Macrostomia Syndrome Allison has AMS (Has a photo gallery)

17. Health Ency. Disease Aase Syndrome aase syndrome. AaseSmith syndrome. Definition aase syndrome is a rare, inheriteddisorder characterized by anemia with some joint and skeletal deformities. http://www.bayinsider.com/shared/health/adam/ency/article/001662.html

18. Aase Syndrome : Meddie Health Search ITEMS LINKS Adam.com An Overview A definition of aase syndromewith a brief discussion on causes, incidence and risk factors. 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 : Aase Syndrome ITEMS: LINKS: Adam.com: An Overview A definition of Aase syndrome with a brief discussion on causes, incidence and risk factors. (Rating: 0.00 Votes: 0) Rate It Pediatric Database A definition of Aase syndrome,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.

19. Genetic Disorders : Meddie Health Search CATEGORIES Aarskog Syndrome (6). aase syndrome (4). AblepharonMacrostomiaSyndrome (4). Alagille Syndrome (5). Alkaptonuria (5). Alpha http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/

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 CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. (Rating: 0.00 Votes: 0)

20. ThirdAge - Adam - Aase Syndrome aase syndrome. Definition aase syndrome is a rare, inherited disorder characterizedby anemia with some joint and skeletal deformities. Alternative Names http://www.thirdage.com/health/adam/ency/article/001662.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 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: 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. 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>'); THIS WEEK'S FEATURES Make every day like a spa visit Get your over-eating in control with this weight loss menu 5 smart bone-builders that can combat osteoporosis FREE NEWSLETTER Health See latest More Newsletters 2 Years FREE! That's DOUBLE Our Best Offer Ever!

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 95    1  | 2  | 3  | 4  | 5  | Next 20