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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2760
OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.
It has been described in three out of nine children from one family.
Autosomal dominant inheritance was suggested.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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