Health

What causes Aase syndrome?

Aase syndrome is a congenital malformation. For a child with Aase syndrome, they have a reduced number of red blood cells from birth and three bones in one or both thumbs instead of two. Some children may have additional deformities. This condition is also called Aase Smith syndrome and congenital anemia syndrome of the thumb l.

Aase syndrome is a rare disorder that includes anemia and some joint skeletal abnormalities.

Signs

There are no little or no fingers
Mouth roof slit
Reduce skin lines on the finger joints
Ear deformation
Drooping eyelids
Complete inability to grow joints from birth (contraction deformity)
Narrow shoulders
Pale skin
Triple thumb joint (false joint)

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