AASE SYNDROME & TREATMENT
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.