Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome

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.

The anemia tends to improve with age.

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.

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.

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Aase syndrome Symptoms

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Aase syndrome Prevention

Review Date: 08/11/2009
Reviewed By: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. 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)