When should you see a doctor for Aase syndrome?
Last updated September 6, 2026.
**See a doctor promptly if your child has unexplained paleness, fatigue, or weakness, especially with thumb differences or limited joint movement present from birth.** Aase syndrome is a rare condition involving anemia and differences in bone or joint development. These signs do not establish a diagnosis, so your child needs an examination and blood tests. Call 911 for severe trouble breathing or blue lips. If your child already has a diagnosis, keep scheduled blood tests and specialist visits, and report new symptoms promptly.
What to do
- **Arrange an evaluation:** Contact your child's doctor about unexplained paleness, weakness, or unusual tiredness.
- **Get emergency help:** Call 911 if your child has severe trouble breathing or blue lips.
- **Bring your records:** Bring previous blood test results and notes about when you first noticed symptoms.
- **Keep follow-up visits:** Follow your child's specialist's schedule for examinations and blood tests.
- **Discuss family history:** Ask about genetic counseling before pregnancy if Aase syndrome runs in your family.
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