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Aase syndrome

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Aase syndrome

Alternative Names:

Aase-Smith syndrome
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.

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