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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

21. Aase Syndrome- Medco.com
aase syndrome is a rare, inherited disorder characterized by anemia with somejoint and skeletal deformities.
http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

22. Cleft Palate - Medco.com
aase syndrome is a rare, inherited disorder characterized by anemia with somejoint and skeletal deformities. 6, *TreacherCollins syndrome
http://www.medcohealth.com/medco/consumer/ehealth/ehskeywordsearch.jsp?topicID=C

23. Aase Syndrome - Washington DC
aase syndrome Washington Hospital Center is located in Washington DC.
http://www.whcenter.org/12229.cfm
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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.
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:

24. Aase Syndrome Information Diseases Database
aase syndrome,AaseSmith syndrome, Disease Database Information.
http://www.diseasesdatabase.com/ddb29332.htm
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Aase syndrome information
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2 synonyms or equivalents were found. Aase syndrome
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Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool.
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25. Disease, Medication, Symptom Etc Database Index : A Diseases Database
AarskogScott syndrome see Aarskog syndrome aase syndrome Aase-Smith syndromesee aase syndrome Abacavir Abarelix ABCD syndrome Abciximab
http://www.diseasesdatabase.com/disease_index_a.asp
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AA amyloidosis

Aagenaes syndrome see Cholestasis-oedema syndrome, Norwegian type
Aarskog Ose Pande syndrome see SHORT syndrome
Aarskog syndrome

Aarskog-Scott syndrome see Aarskog syndrome
Aase syndrome

Aase-Smith syndrome see Aase syndrome
Abacavir

Abarelix

ABCD syndrome
... Abciximab Abdo distended see Abdominal distension Abdo distention see Abdominal distension Abdo mass see Abdominal mass Abdo pain see Abdominal pain Abdomen distended see Abdominal distension Abdominal and pelvic pain see Abdominal pain Abdominal decompression Abdominal distension Abdominal mass Abdominal obesity-metabolic syndrome see Reaven syndrome X Abdominal pain Abdominal swelling see Abdominal distension Abducens nerve lesion see 6th cranial nerve disorder Abducent nerve pathology see 6th cranial nerve disorder Abecarnil Abetalipoproteinaemia Abetalipoproteinemia see Abetalipoproteinaemia Ablepharon-macrostomia syndrome Abnormal biochemistry findings see Biochemical abnormality Abnormal dermatoglyphics Abnormal heart rhythm see Cardiac arrhythmia Abnormal heart sounds Abnormal hematology findings see Hematological abnormality Abnormal reflexes Abnormal splitting of heart sounds Abnormal sputum ABO incompatibility (feto-maternal) see ABO isoimmunization of fetus and newborn ABO isoimmunization of fetus and newborn Abortion, missed

26. Aase Syndrome - Alegent Health Serving Eastern Nebraska And Southwest Iowa
aase syndrome courtesy of Alegent Health serving eastern Nebraska and southwestIowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley,
http://www.alegent.com/1967.cfm
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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.
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:

27. 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
http://www.bchealthguide.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-caQ2_05";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

28. Hill Health Topics A-Z - Aase Syndrome
aase syndrome. National Organization for Rare Disorders. Important It is possiblethat the main title of the report aase syndrome is not the name you
http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord106&SE

29. Aase Syndrome - Overview
aase syndrome. Alternative names. AaseSmith syndrome. Definition. A rareinherited disorder characterized by anemia and some joint and skeletal
http://www.humed.com/humc_ency/ency/article/001662.htm
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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.

30. Aase Syndrome
Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/AASE SYNDROME.as

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our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Aase syndrome, (Jon Morton Aase, born 1936, American paediatrician), syndrome with clinical features which include mild intrauterine growth retardation, anaemia and triphalangeal thumbs. Inheritance is not established but may be X-linked recessive or autosomal recessive. Radiographic examination reveals a consistent finding of triphalangeal thumbs with variable finding of clinodactyly , delayed bone age, absent navicular bones and underdevelopment of the iliac bones.
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31. 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

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Aa-Af
Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) AASE Syndrome (Anemia with Triphalangeal Thumbs) AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) Ablepharon

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

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33. Aase Syndrome - Wikipedia, The Free Encyclopedia
aase syndrome or AaseSmith syndrome is a rare inherited disorder characterizedby anemia with some joint and skeletal deformities. aase syndrome is thought
http://en.wikipedia.org/wiki/Aase_syndrome
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Aase syndrome
From Wikipedia, the free encyclopedia.
Aase syndrome or Aase-Smith 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.
Contents
edit
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
edit
Signs and tests

34. Aase Syndrome - Synonyms Of Augusta, Georgia
aase syndrome Synonyms - University Health Care System of Augusta, Georgia.
http://www.universityhealth.org/12837.cfm

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Aase Syndrome
Synonyms
Disorder Subdivisions

General Discussion

Resources
...
For a Complete Report
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

35. Aase Syndrome - St. Joseph Mercy, Ann Arbor Michigan
aase syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor, SEMichigan, Washtenaw County, Livingston County, Wayne County, Oakland County,
http://www.sjmercyhealth.org/12170.cfm
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National Organization for Rare Disorders, Inc.
Aase Syndrome
Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report
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

36. Aase Syndrome (Disease)... Fort Lauderdale, Florida
aase syndrome (Disease) Fort Lauderdale, South Florida, Weston, Coral Springs,Florida, Deerfield Beach.
http://www.browardhealth.org/15480.cfm
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Aase syndrome (Disease)
Definition Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities. Alternative Names Aase-Smith syndrome Causes And Risk 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. Prevention As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited. 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

37. The Aase Syndrome In A Female Infant -- Higginbottom Et Al. 15 (6): 484 -- Journ
This report describes a 2month-old female with the aase syndrome, bringing to8 the total number of cases of this disorder. Features include triphalangeal
http://jmg.bmjjournals.com/cgi/content/abstract/15/6/484

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Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Higginbottom, M. C. Articles by Boyer, J. L. Journal of Medical Genetics, 1978, Vol 15, 484-486
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The Aase syndrome in a female infant
MC Higginbottom, KL Jones, FH Kung, TK Koch and JL Boyer
This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.

38. JMG Online -- Table Of Contents (15 [6])
The aase syndrome in a female infant MC Higginbottom, KL Jones, FH Kung, TK Koch,and JL Boyer J Med Genet 1978; 15 484486. Abstract
http://jmg.bmjjournals.com/content/vol15/issue6/

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Vol Page [Advanced] Only Abstracts available for this issue Other Issues: December 1978 (Volume 15, Number 6). [Index by author] Find articles in this issue containing these words:
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To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Articles Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
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J Med Genet 1978; 15: 409-413. [Abstract] Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence
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J Med Genet 1978; 15: 414-417. [Abstract] Segregation analysis of chronic childhood spinal muscular atrophy
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39. Resource Library Find Information On Aase Syndrome At MerckSource
Find information on aase syndrome at MerckSource. Learn more about aase syndrome,aase syndrome is a rare, inherited disorder characterized by anemia with
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

40. Disease - Aase Syndrome - Detroit, Michigan
Disease aase syndrome - courtesy of Henry Ford Health System of Detroit, Michigan.
http://www.henryfordhealth.org/12809.cfm
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Disease - 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 And Risk: 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. Prevention: As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited. 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

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