Aase syndrome
Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder. The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.
It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith, who characterized it in 1968.
Signs and symptoms
Among the presentation are:- Mildly slowed growth
- Pale skin
- Delayed closure of fontanelles
- Narrow shoulders
- Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
- Inability to fully extend the joints from birth
- Cleft palate
- Deformed ears
- Droopy eyelids
Complications
- Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.
- Decreased white blood cells alter the body's ability to fight infection.
- If a heart defect exists, it may cause multiple complications.
- Severe cases have been associated with still birth or early death.
Cause
Some cases of Aase syndrome have been shown to be inherited, and are due to a change in one gene which makes ribosomal proteins. However, many cases are not inherited and occur without a known cause.Diagnosis
- A CBC will show anemia and a decrease in the white blood cell count.
- An echocardiogram may reveal heart defects.
- X-rays will show skeletal abnormalities as described above.
- A bone marrow biopsy may be performed.