Aase syndrome is a rare genetic disorder that may be detected during early infancy. The disorder is primarily characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia). In some instances, additional abnormalities may be present.
Aase syndrome Causes
The exact cause of Aase syndrome is unknown. However, most evidence suggests that the disorder is inherited as an autosomal recessive trait.
The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
Aase syndrome Symptoms
* Absent or small knuckles
* Cleft palate
* Decreased skin creases at finger joints
* Deformed ears
* Droopy eyelids
* Inability to fully extend the joints from birth (contracture deformity)
* Narrow shoulders
* Pale skin
* Triple-jointed thumbs
Aase syndrome Signs
* Delayed closure of soft spots (fontanelles)
* Mildly slowed growth
Aase syndrome Treatment
Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.
A bone marrow transplant may be necessary if other treatment fails.
Expectations (prognosis)
The anemia tends to improve with age.
Complications
Complications related to anemia include:
* Fatigue
* Decreased oxygen in the blood
* Weakness
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of Aase syndrome have been associated with stillbirth or early death.