Aase syndromeAase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...
Many cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases (45%) have been shown to be inherited. These are due to a change in 1 of 9 genes important for making protein correctly (the genes make ribosomal proteins)
This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.
The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
Symptoms may include:
- 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
Exams and Tests
The health care provider 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 medicine 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 provider who has experience treating anemias.
A bone marrow transplant may be necessary if other treatment fails.
Bone marrow transplant
A bone marrow transplant is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Bone marrow is the soft, fat...
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.
Clinton C, Gazda HT. Diamond-Blackfan anemia. Gene Reviews. Seattle, WA: University of Washington; 2014:9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Accessed August 1, 2015.
Jones KL, Jones MC, Del Campo M. Facial-limb defect as major feature. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap I.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.