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Aase-Smith syndrome
Aase-Smith syndrome
Classification & external resources
| ICD-10
| GroupMajor.minor
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| ICD-9
| xxx
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| OMIM
| 147800 type I, 105650 type II
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| DiseasesDB
| 29332
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| MedlinePlus
| 001662
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Aase-Smith syndromes are inherited deformities occurring in males characterised by a decreased production (hypoplasia) of red blood cells leading to anemia as well as certain joint contractures. They are named after Jon Morton Aase and David Weyhe Smith.[1]
Aase-Smith syndrome type I also involves hydrocephalus (due to Dandy-Walker anomaly) and cleft palate.
Aase-Smith syndrome type II has as a feature triphalangeal thumbs with three rather than the normal two phalanx bones in the thumb.[2] It is the same as Diamond-Blackfan anemia
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Aase-Smith_syndrome". A list of authors is available in Wikipedia.
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