The Brain and Spine Institute is made up of experts in the field of neuroscience in order to bring patients the best healthcare in East Tennessee for a full range of neurological diseases and disorders.
myClipboard
myClipboard
Save news, events, articles and doctor's information to your personal clipboard for later reference.
Add items by clicking the 
button.
Create an account
Centers of Excellence
-
-
We provide a comprehensive continuum of cancer services, including prevention, outreach, diagnostic, treatment and support services delivered by our highly skilled staff with compassion and care.
-
The Center for Women & Children's Health is a hub for supporting women's and children's individual healthcare needs. The center provides support, research and unmatched patient-centered care.
-
Emergency and Trauma Services is the only Level I Trauma Center in the area and serves as the tertiary referral center for medical care in East Tennessee, serving Knox County and 21 surrounding counties.
-
The Heart Lung Vascular Institute brings together expertise in clinical care, teaching and research. Patients receive exceptional healthcare combined with patient-centered care.
Share
Print
Aase syndrome
Definition
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Alternative Names
Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome
Causes, incidence, and risk factors
Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited.
The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
Symptoms
- Absent or small knuckles
- Cleft palate
- Decreased skin creases at finger joints
- Deformed ears
- Droopy eyelids
- Inability to fully extend the joints from birth (contracture deformity)
- Narrow shoulders
- Pale skin
- Triple-jointed thumbs
Signs and tests
Signs may include:
- Delayed closure of soft spots (fontanelles)
- Mildly slowed growth
Tests that may be done include:
Treatment
Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.
A bone marrow transplant may be necessary if other treatment fails.
Support Groups
Expectations (prognosis)
The anemia tends to improve with age.
Complications
Complications related to anemia include:
- Fatigue
- Decreased oxygen in the blood
- Weakness
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of Aase syndrome have been associated with stillbirth or early death.
Calling your health care provider
Call your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recommended if you have a family history of Aase syndrome. Genetic counseling can help families understand issues such as how the disease is inherited, and the care, treatment, and possible outcome of the patient.
Prevention
There is no known prevention.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).