Aase Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Aase Syndrome?
A pediatrician or family doctor usually manages day-to-day care. A hematologist, a specialist in blood disorders, often helps guide anemia treatment. A medical geneticist may confirm the diagnosis. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Aase syndrome?
Aase syndrome is a rare condition that a person is born with. It affects the bone marrow, the soft tissue inside bones that makes blood cells, and body parts such as the thumbs and shoulders. It is very uncommon, and doctors may see only a few cases in their whole career.
Aase syndrome is a genetic condition. The main problem is with the bone marrow, which does not make enough red blood cells, the cells that carry oxygen. Without enough of them, a person has anemia.
Symptoms
The most common sign is anemia, which can make a baby look pale, feel tired, and feed poorly. Physical differences are often present from birth, such as missing, small, or narrow thumbs and limited shoulder movement.
Causes and who gets it
Aase syndrome is caused by changes in genes, and in many cases the exact gene involved is not known. Most cases happen for the first time in a child, with no family history. It affects boys and girls.
How doctors diagnose it
Doctors start with a physical exam and a blood test to check red blood cell counts. An X-ray of the hands and shoulders can show problems with the thumbs and joints, and genetic testing can help confirm the diagnosis.
Treatment
Treatment focuses on the anemia. Some babies need blood transfusions to keep enough red blood cells in their body. Doctors may also prescribe corticosteroids, medicines that help the bone marrow make more red blood cells.
When to see a doctor
See a doctor if a baby looks unusually pale, seems very tired, feeds poorly, or is not growing as expected. If a child already has Aase syndrome, call the doctor for fevers, worsening tiredness, or signs of infection.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid with a flat monthly fee instead of using insurance for visits. A concierge doctor works similarly but usually charges more and often bills insurance alongside the fee. Either type can handle routine monitoring for Aase syndrome and coordinate care with specialists.
Common questions
Is Aase syndrome the same as Diamond-Blackfan anemia?
No, they are separate conditions, but they look alike. Both cause low red blood cells and thumb differences. A genetics specialist can help sort out which condition a child has.
Will my child outgrow the anemia?
Many children need less treatment as they get older, and some no longer need transfusions or medicine. Every child is different, so the blood specialist will keep checking counts over time.
Can Aase syndrome be prevented?
There is no known way to prevent it, since it is present from birth. Families who have had one child with the condition may want to talk with a genetic counselor, who can explain inherited conditions and the chances of them repeating.
Does Aase syndrome affect learning or development?
Most children with Aase syndrome have normal intelligence. Some may need therapy or surgery for physical differences. The condition mainly affects the blood and the skeleton.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
