Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
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.
- 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
The doctor will perform a physical exam. Tests that may be done include:
Treatment may involve blood transfusions in the first year of life to treat anemia.
A steroid medication called 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.
The anemia tends to improve with age.
Complications related to anemia include:
- Decreased oxygen in the blood
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.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Reviewed by:Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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 rigorousstandards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information andservices. Learn more about A.D.A.M.'s editorialpolicy, editorialprocess, and privacypolicy. 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.)
The information provided herein should not be used during any medical emergency or for the diagnosis or treatmentof any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 2015 A.D.A.M., Inc. Any duplication ordistribution of the information contained herein is strictly prohibited.