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Aase Syndrome

Aase Syndrome Causes

The disease is believed to be an autosomal dominant disorder, and is as well caused by the underdevelopment of the bone marrow.

Aase Syndrome Definition

Aase syndrome is a rare congenital defect characterized by anemia accompanied with certain skeletal deformities.

Aase Syndrome Diagnosis

The disease can be diagnosed by genetic testing.

Aase Syndrome Symptoms and Signs

Among the symptoms of the disorder include paleness, slowed growth, delayed closure of soft spots, narrow shoulders, cleft palate, hypermobility and deformed ears. Others meanwhile show droopy eyelids.

Aase Syndrome Treatment

The treatments used to address the disease include frequent blood transfusions and bone marrow transplant to stabilize the production of platelets.

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