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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

81. Give Enema - OmniMedicalSearch.com - Give Enema
aase syndrome HealthCentral. 9. Colorectal Cancer Colorectal Cancer MedlinePlus.10. Faster Ulcerative Colitis Treatment (WebMD Medical News Archive)
http://www.omnimedicalsearch.com/sr_give_enema.html

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82. Skeleton - DIAGNOSIS OF FETAL ABNORMALITIES - THE 18-23 WEEKS SCAN
TAR syndrome and aase syndrome), or genetic syndromes with cardiac defects (suchas Holt–Oram syndrome, or the Lewis upper limb–cardiovascular syndrome)
http://www.centrus.com.br/DiplomaFMF/SeriesFMF/18-23-weeks/chapter-09/skeleton.h
Skeleton Handbook of Fetal Abnormalities Algorithms Appendix
SKELETON
Normal Sonography Anatomy
Skeletal Anomalies

Osteochondrodysplasias

Limb Deficiency or Congenital Amputations
...
Authors

Normal Sonography Anatomy Limb buds are first seen by ultrasound at about the 8th week of gestation; the femur and humerus are seen from 9 weeks, the tibia/fibula and radius/ulna from 10 weeks and the digits of the hands and the feet from 11 weeks. All long bones are consistently seen from 11 weeks. Body movements (wiggling) are seen at 9 weeks and, by 11 weeks, limbs move about readily. The lengths of the humerus, radius/ulna, femur and tibia/fibula are similar and increase linearly with gestation. At the 18–23-week scan, the three segments of each extremity should be visualized, but it is only necessary to measure the length of one femur.  The relationship of leg and foot should also be assessed to rule out clubfoot.
Clubfoot - 2D Ultrasound Clubfoot - 3D Ultrasound (rendering mode) SKELETAL ANOMALIES Prevalence Skeletal dysplasia is found in about 1 per 4000 births; about 25% of affected fetuses are stillborn and about 30% die in the neonatal period. The birth prevalences of the most common dysplasias are shown in the Table on the next page.

83. Links: - Alabama Council For Developmental Disabilities
Kindler Syndrome An article and case study of this rare disease. AarskogSyndrome aase syndrome Abetalipoproteinemia Ablepharon-Macrostomia
http://www.acdd.org/Links/conditions/Rare_Disorders.htm
Skip to content You are here: Home Links Conditions Rare Disorders
Rare Disorders
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On this page:
General
  • Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations. Kindler Syndrome - An article and case study of this rare disease. Includes links. National Organization for Rare Disorders, Inc.

84. Aase, Syndrome D'
Translate this page Base de données sur les maladies rares et les médicaments orphelins.
http://www.orpha.net/static/FR/aase.html
Accès à la base de données Orphanet
Aase, syndrome d'
Accès direct aux détails Résumé
Signes de la maladie
  • ANEMIE
  • DERMATOGLYPHES ANORMAUX(AUTRE QUE PPT)
  • DIFFICULTE D'ELEVAGE
  • POUCE FINGERLIKE/TRIPHALANGIE
  • RETARD DE CROISSANCE INTRA-UTERIN
  • TRANSMISSION AUTOSOMIQUE RECESSIVE
  • RAYON RADIAL ANORMAL
  • ANOMALIE DU COEUR
  • EPAULE ETROITE/TOMBANTE
  • FENTE LABIALE LATERALE
  • FONTANELLE:LARGE/RETARD DE FERMETURE
  • PALAIS OGIVAL/ETROIT
  • SPINA BIFIDA OCCULTA
Mise à jour : 04/09/2005
Accès à la base de données Orphanet

85. Aase-Smith Syndrome II Definition - Medical Dictionary Definitions Of Popular Me
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=15593

86. Aase-Smith Syndrome I Definition - Medical Dictionary Definitions Of Popular Med
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=17546

87. Aase-Smith Syndrome (www.whonamedit.com)
aaseSmith syndrome A familial deformity syndrome. Also known as aase’s syndrome.
http://www.whonamedit.com/synd.cfm/1858.html

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This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
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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:

88. Jon Morton Aase (www.whonamedit.com)
Jon Morton aase American paediatric morphologist, born 1936. Albuquerque, NewMexico. Associated with aaseSmith syndrome.
http://www.whonamedit.com/doctor.cfm/334.html

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Jon Morton Aase American paediatric morphologist, born 1936. Albuquerque, New Mexico. Associated eponyms: Aase-Smith syndrome A familial deformity syndrome. Biography: Jon Morton Aase is reckoned as the pre-eminent authority on the foetal alcohol syndrome, the most common cause of mental deficiency. He was born in Wisconsin and grew up in California and Alabama. After graduating in medicine from Yale University in New Haven, Connecticut, he interned at the University of Minnesota and completed his residency at the University of Washington. He then spent two years studying the indigenous population of Alaska, before he returned to Seattle to work with the paediatrician and dysmorphologist David W. Smith (1926-1981). After five more years in Alaska he came to the University of New Mexico, Albuquerque, where he became chief of the dysmorphology division. 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. He is on the advisory board of National Organization on Fetal Alcohol Syndrome. Besides his tenure at the University of New Mexico Aase (1996) is a consulting dysmorphologist in private practice. He also provides clinical and educational services for various state and national agencies.

89. 105650 DIAMOND-BLACKFAN ANEMIA; DBA
(1991) considered the syndrome reported by aase and Smith (1969) to be the same (1990) referred to it as aaseSmith syndrome II (aase-Smith I being that
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:105650] -e

90. Www.virginiahospitalcenter.com/ency/article/001662.htm
University of Miami School of Medicine Glossary - aase-Smith aase-Smith syndrome I A syndrome of congenital malformations (birth defects)characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint
http://www.virginiahospitalcenter.com/ency/article/001662.htm

91. Statesman.com
aaseSmith syndrome. Prevention. As with most genetic diseases there is no wayto prevent the entire disease. With prompt recognition and treatment of
http://www.statesman.com/health/healthfd/shared/health/adam/ency/article/001662p
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Disease A Aase syndrome Overview Symptoms Treatment Prevention Alternative names: Aase-Smith syndrome 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. Ency. home Disease A The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. For further information click here
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92. Fetal Alcohol Syndrome
Overview What is fetal alcohol syndrome (FAS)? May, PA, Hymbaugh, KJ, aase,JM, and Samet, JM Epidemiology of fetal alcohol syndrome among American
http://www2.potsdam.edu/hansondj/FAS/FAS.html
OVERVIEW: What is fetal alcohol syndrome (FAS)? Can a single drink cause FAS? Can pregnant women safely drink in moderation? Who is at greatest risk of giving birth to a child with fetal alcohol syndrome? How we can reduce FAS?
What is Fetal Alcohol Syndrome?
Fetal alcohol syndrome (FAS) is a serious health problem that tragically affects its victims and their families, but that is completely preventable. Causing a child to suffer from fetal alcohol syndrome is really nothing short of child abuse and it lasts for life. Babies born with FAS tend to weigh less and be shorter than normal. They usually suffer from:
smaller heads
deformed facial features
abnormal joints and limbs
poor coordination
problems with learning
short memories
Victims of fetal alcohol syndrome often experience mental health problems, disrupted school experience, inappropriate sexual behavior, trouble with the law, alcohol and drug problems, difficulty caring for themselves and their children, and homelessness.
Should Pregnant Women Drink at All? Is there a safe or acceptable level of alcohol consumption for pregnant women?

93. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
Opitz JM, Richierida Costa A, aase JM, Benke PJ. 1988. FG syndrome update 1988Note of 5 new patients and bibliography. Am J Med Genet 30309-328.
http://orphanet.infobiogen.fr/data/patho/GB/uk-FG.html
FG syndrome
Author: Prof. John M. Opitz
Scientific editor: Prof. Didier Lacombe Creation date: September 2001
Update: July 2003
Disease name and synonyms

Excluded disorders

Diagnostic criteria and definition

Nosology
...
References
Disease name and synonyms
  • FG syndrome
  • Opitz-Kaveggia syndrome, includes the neurofaciodigitorenal (NFDR) syndrome and probably some cases of the Neuhäuser megalocornea syndrome.
  • Syndrome FGS1
  • Megalocornea-Mental Retardation syndrome
Excluded disorders
  • For the moment the Opitz (G/BBB) syndromes are excluded.
  • Opitz syndrome.
Diagnostic criteria and definition
Nosology
Primarily with the "Opitz" (G/BBB) syndromes which show extensive overlap with FG except that laryngeal cleft, pulmonary agenesis or hypoplasia and tetralogy of Fallot have been seen only in the G/BBB syndrome so far.
Prevalence
The disease is possibly as common as 1:1,000 in the population of the Utah valley, but apparently common elsewhere in the US and in Italy.

94. Palm Beach Post: Palm Beach & Treasure Coast News, Sports, Entertainment, Jobs,
aaseSmith syndrome AAT deficiency Abdominal aortic aneurysm Abdominalpregnancy Abducens palsy Abetalipoproteinemia Ablatio placentae
http://www.palmbeachpost.com/health/healthfd/shared/health/adam/ency/index/disei
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95. Fetal Alcohol Syndrome- Alcohol Alert No. 13-1991
15) aase, JM. The fetal alcohol syndrome in American Indians A high risk group.Neurobehavioral Toxicology and Teratology 3(2)153156, 1981.
http://www.niaaa.nih.gov/publications/aa13.htm
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- WHAT'S NEW - Updated Clinician's Guide NIAAA Newsletter Updated Website for Middle Schoolers Initiative on Underage Drinking NESARC Public Use Data Files Current NIAAA Newsletter College Drinking Prevention Web Site Leadership to Keep Children Alcohol Free
Fetal Alcohol Syndrome In 1973, Jones and Smith (1) coined the term "fetal alcohol syndrome" (FAS) to describe a pattern of abnormalities observed in children born to alcoholic mothers. It was originally postulated that malnutrition might be responsible for these defects. However, the pattern of malformation associated with FAS is not seen in children born to malnourished women, and alcohol has been found to be acutely toxic to the fetus independently of the effects of malnutrition (2,3). Criteria for defining FAS were standardized by the Fetal Alcohol Study Group of the Research Society on Alcoholism in 1980 (4), and modifications were proposed in 1989 by Sokol and Clarren (5). The proposed criteria are 1) prenatal and/or postnatal growth retardation (weight and/or length below the 10th percentile); 2) central nervous system involvement, including neurological abnormalities, developmental delays, behavioral dysfunction, intellectual impairment, and skull or brain malformations; and 3) a characteristic face with short palpebral fissures (eye openings), a thin upper lip, and an elongated, flattened midface and philtrum (the groove in the middle of the upper lip).

96. Clinical Dysmorphology - UserLogin
To date, only two families with aaseSmith syndrome have been reported The clinical overlap between Gordon syndrome and aase-Smith syndrome is striking.
http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200101000-00009.htm
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97. TheFetus.net - Holt-Oram Syndrome-Héctor G Quiroga P. MD, Yormar Ottolina MD
Autosomal Dominant triphalangeal thumb, Fancony Anemia, TAR syndrome, Aasesyndrome, Vacterl Association, Baller Gerold syndrome and many others.
http://www.thefetus.net/page.php?id=1228

98. Rare Blood Disorders
Some of the rare Blood disorders which are indexed on BloodBook.com are AaseSyndrome, Blackfan Diamond Anemia, Fanconi s Anemia, Hemolytic Warm Antibody
http://www.bloodbook.com/blood-rarediso.html
RARE BLOOD DISORDERS
BLOODBOOK.COM THIS PAGE WILL LINK TO EXTENSIVE INFORMATION ON RARE BLOOD DISORDERS AND DISEASES. TO HOME PAGE CLOSE WINDOW Rare Blood disorders are Blood disorders and diseases that are not as common as the Blood disorders that we hear of most often. They affect a very small part of the population of the world, and more often than not, affect smaller and more isolated population groups. Research and research money for rare Blood disorders is also rare. Further, facts and information on rare Blood disorders are also rare. Some of the rare Blood disorders which are indexed on BloodBook.com are: Aase Syndrome, Blackfan Diamond Anemia, Fanconi's Anemia, Hemolytic - Warm Antibody Anemia, Hereditary Nonspherocytic Hemolytic Anemia, Hereditary Spherocytic Hemolytic Anemia, Megaloblastic Anemia, Hereditary Angioedema, Antithrombin III Deficiency, Cor Triatriatum, Dilatation of the Pulmonary Artery, Idiopathic, Idiopathic Edema, Endocardial Fibroelastosis (EFE), Factor XIII Deficiency, Congenital Heart Block, Hemangioma Thrombocytopenia Syndrome, Hereditary Hemorrhagic Telangiectasia, Hypoplastic Left Heart Syndrome, Idiopathic Pulmonary Fibrosis, Hereditary Lymphedema, Maffucci Syndrome, Perniosis, Acquired Pure Red Cell Aplasia, Pyruvate Kinase Deficiency, Thalassemia Minor and Waldenstrom's Macroglobulinemia. There is more about Blood, indexed by category, Please

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