Definition:
Aase syndrome is a rare congenital defect characterized by anemia accompanied with certain skeletal deformities.
Diagnosis:
The disease can be diagnosed by genetic testing.
Treatment:
The treatments used to address the disease include frequent blood transfusions and bone marrow transplant to stabilize the production of platelets.
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.
Causes:
The disease is believed to be an autosomal dominant disorder, and is as well caused by the underdevelopment of the bone marrow.
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