Aase syndrome – Causes, Symptoms, Signs & Treatment

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.


Disclaimer: This content including advice provides generic information only. It is in no way a substitute for qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.

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