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Aase Syndrome

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Definition

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.

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

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Fatigue
Fatigue is a feeling of weariness, tiredness, or lack of energy. More »
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Pale Complexion
Paleness is an abnormal loss of color from normal skin or mucous membranes. More »
ADAM

Anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Hemoglobin is the oxygen-carrying protein inside red blood cells. It gives red blood cells their red color. Peopl... More »
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