**Aase syndrome causes anemia, which can lead to pale skin, tiredness, and weakness, along with differences in bones and joints present at birth.**
Your child may have thumbs with three bones instead of two, small or absent knuckles, or joints that cannot fully straighten. Other signs include narrow shoulders, drooping eyelids, unusually shaped ears, and a cleft palate, an opening in the roof of the mouth. Aase syndrome is considered part of Diamond-Blackfan anemia, and symptoms vary, with anemia usually appearing during infancy. If you notice these signs, arrange a pediatric visit and keep notes about changes in your child's energy and skin color.
The signs of Aase syndrome
Common questions
What are the symptoms of Aase syndrome?
Aase syndrome involves anemia and bone or joint differences present at birth. You may notice pale skin, tiredness, or weakness in your child because the bone marrow makes too few red blood cells. Physical signs can include thumbs with three bones instead of two, small or absent knuckles, joints that do not fully straighten, narrow shoulders, drooping eyelids, unusually shaped ears, and a cleft palate. Not every child has every sign. Your child needs a clinician's examination and blood tests to identify the cause; symptoms alone cannot confirm Aase syndrome.