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.
- Aase-Smith Syndrome II
- Congenital Anemia and Triphalangeal Thumbs
- Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type
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.
March of Dimes Birth Defects Foundation
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NIH/National Heart, Lung and Blood Institute
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Bethesda, MD 20892-0105
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 5/8/2008
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