A syndrome of congenital malformations (birth defects) characterized by hydrocephalus, cleft palate, and severe arthrogryposis (joint contractures). Other anomalies may include deformed ears, ptosis (drooping) of the eyelids, inability to open the mouth fully, heart defects, and clubfoot. The fingers are thin with absent knuckles, reduced creases over the joints and inability to make a full fist.
The syndrome is inherited as an autosomal dominant trait, transmitted from generation to generation, affecting both males and females. It is named for the American dysmorphologists (birth-defect experts) Jon Aase and David W. Smith.
Symptoms
- Mildly slowed growth
- Pale skin
- Delayed closure of fontanelles (soft spots)
- Narrow shoulders
- Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
- Inability to fully extend the joints from birth (congenital contractures)
- Cleft palate
- Deformed ears
- Droopy eye lids
Signs and tests
- A CBC (complete blood count) will show anemia and a decrease in the white blood cell count.
- An echocardiogram may reveal heart defects (ventricular septal defect is most common).
- X-rays will show skeletal abnormalities as described above.
- A bone marrow biopsy may be performed.
Treatment
Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. Abone marrow transplant may be necessary if other treatment fails.
Prognosis
Anemia usually resolves over the years.
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 (depending on the specific defect).
- Severe cases have been associated with still birth or early death.
Prevention
As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.
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