Learn About Aase Syndrome
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type; Diamond-Blackfan with AS-II; Aase-Smith I syndrome; Hydrocephalus-cleft palate-joint contractures syndrome
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 20 genes important for making protein correctly (the genes make ribosomal proteins).
This condition is similar to Diamond-Blackfan anemia, and the two conditions should considered the same. 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
- Deformed ears
- Droopy eyelids
- Inability to fully extend the joints from birth
- Narrow shoulders
- Pale skin
- Triple-jointed thumbs
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.
Lpch Medical Group Div Of Lucile
Kathleen Sakamoto is a Pediatric Hematologist Oncology provider in Palo Alto, California. Dr. Sakamoto is rated as an Elite provider by MediFind in the treatment of Aase Syndrome. Her top areas of expertise are Aase Syndrome, Pure Red Cell Aplasia, Transient Erythroblastopenia of Childhood, Aplastic Anemia, and Bone Marrow Aspiration.
Jeffrey Lipton practices in Toronto, Canada. Mr. Lipton is rated as an Elite expert by MediFind in the treatment of Aase Syndrome. His top areas of expertise are Chronic Myelogenous Leukemia (CML), Leukemia, Pure Red Cell Aplasia, Aase Syndrome, and Bone Marrow Transplant.
Adrianna Vlachos is a Pediatric Hematologist Oncology provider in St Petersburg, Florida. Dr. Vlachos is rated as an Elite provider by MediFind in the treatment of Aase Syndrome. Her top areas of expertise are Aase Syndrome, Pure Red Cell Aplasia, Aplastic Anemia, and Transient Erythroblastopenia of Childhood.
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.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Summary: Gene therapy is a new possible treatment for the anemia of DBAS. Gene therapy will soon be available for patients with RPS19-mutated DBAS. This involves inserting the corrected RPS19 gene into the cells, leading to correction of the anemia. The application of gene therapy requires sufficient numbers of stem cells on which the correction can be performed. Stem cells must be mobilized (stimulated to...
Published Date: September 18, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Gallagher PG. The neonatal erythrocyte and its disorders. In: Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG, eds. Nathan and Oski's Hematology and Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 2.
National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Aase-Smith syndrome. rarediseases.info.nih.gov/diseases/5642/aase-smith-syndrome. Updated February 2023. Accessed September 25, 2023.
Thornburg CD. Congenital hypoplastic anemia (Diamond-Blackfan anemia). In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 475.