Affected persons may be asymptomatic, the diagnosis made by chance when x-rays are taken for an unrelated purpose. The facies, physique, mentality, and life span are normal, and general health is unimpaired. Occasionally, the presenting feature is facial palsy or deafness resulting from cranial nerve compression by bone overgrowth. Mild anemia is a rare complication. The skeleton usually is radiologically normal at birth, bone sclerosis becoming increasingly apparent as childhood progresses.
Bony involvement is widespread but patchy, and the extremities are sometimes spared.
The calvaria is dense, and the sinuses may be obliterated. In some patients, treatment of anemia with transfusion or splenectomy may be needed. Bone overgrowth produces marrow dysfunction, and presenting symptoms include failure to thrive, spontaneous bruising, abnormal bleeding, and anemia. Hepatosplenomegaly develops, and palsies of the optic, oculomotor, and facial nerves occur in later stages. Death from anemia, overwhelming infection, or hemorrhage usually occurs in the first year of life.