Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Jones J, Luong D, et al. Aase-Smith syndrome. Reference article, Radiopaedia.org (Accessed on 22 Mar 2025) https://doi.org/10.53347/rID-14914
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases.
It is believed to be due to an underdeveloped bone marrow.
Genetics
The genetic basis is not yet known however it is believed to be an autosomal recessive disorder.
Associations
History and etymology
It is named after Jon Morton Aase and David Weyhe Smith, American pediatricians, who characterized it in 1968 5.
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1. Balci >. Limb Anomalies and Anemia: Aase-Smith Syndrome. Fetal and Pediatric Pathology. 2008;27(6):292-3. doi:10.1080/15513810802448464 - Pubmed
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2. Patton M, Sharma A, Winter R. The Aase-Smith Syndrome. Clinical Genetics. 2008;28(6):521-5. doi:10.1111/j.1399-0004.1985.tb00420.x - Pubmed
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3. National Organization for Rare Disorders. NORD Guide to Rare Disorders. (2002) ISBN: 0781730635 - Google Books
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4. Hing A & Dowton S. Aase Syndrome: Novel Radiographic Features. Am J Med Genet. 1993;45(4):413-5. doi:10.1002/ajmg.1320450402 - Pubmed
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5. Aase J & Smith D. Dysmorphogenesis of Joints, Brain, and Palate: A New Dominantly Inherited Syndrome. The Journal of Pediatrics. 1968;73(4):606-9. doi:10.1016/s0022-3476(68)80278-1
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6. D'Avanzo M, Pistoia V, Tolone C, Toraldo R, Santinelli R, Iafusco F. Aase-Smith Syndrome: Report of a New Case. Br J Haematol. 1988;70(1):125-6. doi:10.1111/j.1365-2141.1988.tb02445.x - Pubmed
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6. Higginbottom M, Jones K, Kung F, Koch T, Boyer J. The Aase Syndrome in a Female Infant. Journal of Medical Genetics. 1978;15(6):484-6. doi:10.1136/jmg.15.6.484 - Pubmed
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7. Robert J. Gorlin, M. Michael Cohen Jr., D.M.D., Ph.D., Raoul C.M. Hennekam M.D., Ph.D.. Syndromes of the Head and Neck. (2001) ISBN: 9780199747726 - Google Books
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8. Becker K & Splitt M. A Family with Distal Arthrogryposis and Cleft Palate: Possible Overlap Between Gordon Syndrome and Aase-Smith Syndrome. Clinical Dysmorphology. 2001;10(1):41-5. doi:10.1097/00019605-200101000-00009 - Pubmed
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9. Reinhard Schumacher, Laurie H. Seaver, Jürgen Spranger. Fetal Radiology. (2013) ISBN: 9783662053744 - Google Books
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