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Aase syndrome
Aase-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
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...
Causes
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
Symptoms may include:
- Absent or small knuckles
-
Cleft palate
Cleft palate
Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth.
Read Article Now Book Mark Article - Decreased skin creases at finger joints
- Deformed ears
- Droopy eyelids
-
Inability to fully extend the joints from birth (
contracture deformity
)
Contracture deformity
A contracture develops when the normally stretchy (elastic) tissues are replaced by nonstretchy (inelastic) fiber-like tissue. This tissue makes it ...
Read Article Now Book Mark Article - Narrow shoulders
-
Pale skin
Pale skin
Paleness is an abnormal loss of color from normal skin or mucous membranes.
Read Article Now Book Mark Article - Triple-jointed thumbs
Exams and Tests
The health care provider will perform a physical exam. Tests that may be done include:
-
Bone marrow biopsy
Bone marrow biopsy
A bone marrow biopsy is the removal of marrow from inside bone. Bone marrow is the soft tissue inside bones that helps form blood cells. It is foun...
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Complete blood count
(CBC)
Complete blood count
A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...
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Echocardiogram
Echocardiogram
An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...
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Treatment
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...
Outlook (Prognosis)
The anemia tends to improve with age.
Possible 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.
Prevention
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
References
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.
