AASE SYNDROME??

Aase syndrome or Aase-Smith syndrome is a type of rare genetic disorders. This syndrome is characterized by anemia, bone and joint deformities. Aase syndrome is thought to be autosomal dominant type of genetic disorders. Still have not found where the fault genes. Anemua that occur as a result of a developmental disorder of bone marrow, which is where blood cell formation. The syndrome is named after the name of the child's health science experts the United States, Jon Morton Aase and David Weyhe Smith.



symptom

     * Growth is inhibited
     * Pale skin
     * Delayed fontanelle closure (part of the crown is not covered in baby's skull)
     * Shoulder width
     * Joint deformities
     * Ear deformities
     * Cleft
     * Abnormalities of the eyelids

clinical trials

     * Calculate the complete blood type to see the condition of anemia and decreased leukocyte.
     * Electrocardiogram or EKG to check for heart defects.
     * Test X-rays to see abnormalities of bone formation
     * Bone marrow biopsy

therapy

Patients will be given regular blood transfusions in the first year for anemua symptoms. Drug prednisone can be given, despite its side effects are not good pda and perkembanganotak infant growth. Bone marrow transplantation can be performed if prior therapy did not work.
prognosis

Usually the symptoms of anemia can be treated.
complication

     * Complications related to anemia, so the patient may feel tired, lethargic, and decreased binding of oxygen in the blood.
     Decreased leukocytes can weaken the body's defense against infection.
     * If there is a heart defect, it can cause multiple complications related.
     * Severe cases can menuebabkan death after birth.

prevention

This syndrome is a genetic disorder, then there is no specific action to prevent this disease. With early recognition and treatment, complications can be limited to leukocytes.