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.