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| Aase-Smith syndrome Classification and external resources |
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| 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
Footnotes
- ^ Aase-Smith syndrome at Who Named It
- ^ "Definition of Aase-Smith syndrome II". MedicineNet (6/7/2003). Retrieved on 2007-12-02.
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