Aase Syndrome

Below you will find more information about Aase Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Aase Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Aase Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Aase Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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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