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Aase syndrome - Causes, Symptom, Cure, Treatment of Aase syndrome

What is Aase syndrome?

Aase syndrome is also known as Aase-Smith syndrome. Aase syndrome is a rare, inherited disorder characterized by anemia with some joint and skeletal deformities.

Causes of Aase syndrome

The genetic basis of Aase syndrome disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.

Symptoms of Aase syndrome

Mildly slowed growth
Pale skin
contractures)
Cleft palate
Deformed ears
Droopy eye lids
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

Treatment and Cure of Aase syndrome

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. This syndrome can not be prevented.

Women Medical Diseases

Abnormal Uterine Bleeding
Ovulatory cycles
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celebrex vulvodynia
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dysesthetic vulvodynia
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