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Read about aase syndrome medical facts: what is the definition of aase syndrome, what are the signs and symptoms, medical treatment & how to treat aase syndrome, information about the causes, diagnosis, and related aase syndrome diseases.

Definition: What is "Aase Syndrome"?


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

Symptoms & Signs

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

Treatment: How to Treat "Aase Syndrome"?

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


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


The disease can be diagnosed by genetic testing.

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