Aase-Smith syndrome

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]

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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