What are the symptoms of Aase syndrome?
Last updated September 6, 2026.
**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.
What to do
- **Arrange an examination:** Contact your child's pediatrician if you notice persistent paleness, unusual tiredness, or differences in thumbs or joints.
- **Track changes:** Write down when you first noticed symptoms and how your child's energy has changed.
- **Ask about blood tests:** Discuss whether your child needs a complete blood count to check for anemia.
- **Discuss specialist care:** Ask whether your child needs a blood specialist or genetic evaluation.
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