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Aase-Smith syndrome
Aase-Smith syndrome
Classification & external resources
| ICD-10 |
GroupMajor.minor |
| ICD-9 |
xxx |
| OMIM |
147800 type I, 105650 type II |
| DiseasesDB |
29332 |
| MedlinePlus |
001662 |
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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