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
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:
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.
Adrianna Vlachos is a Pediatric Hematologist Oncology specialist and a Pediatrics expert in New Hyde Park, New York. Vlachos has been practicing medicine for over 37 years and is rated as an Elite expert by MediFind in the treatment of Aase Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Pure Red Cell Aplasia, Aase Syndrome, Aplastic Anemia, Transient Erythroblastopenia of Childhood, and Bone Marrow Transplant. Vlachos is currently accepting new patients.
Jeffrey Lipton is a Pediatric Hematologist Oncology specialist and a Pediatrics expert in New Hyde Park, New York. Lipton has been practicing medicine for over 48 years and is rated as an Elite expert by MediFind in the treatment of Aase Syndrome. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Pure Red Cell Aplasia, Aase Syndrome, Aplastic Anemia, Anemia, and Bone Marrow Transplant.
Lydie Da Costa practices in Paris, France. Da Costa is rated as an Elite expert by MediFind in the treatment of Aase Syndrome. She is also highly rated in 19 other conditions, according to our data. Her top areas of expertise are Pure Red Cell Aplasia, Aase Syndrome, Transient Erythroblastopenia of Childhood, Aplastic Anemia, and Bone Marrow Transplant.
The anemia tends to improve with age.
Complications related to anemia include:
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.
Summary: This phase II trial studies how well olaparib works in treating patients with biliary tract cancer that has spread to other places in the body (metastatic) and with aberrant DNA repair gene mutations. Olaparib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.
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-...
Published Date: July 30, 2021
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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Clinton C, Gazda HT, Pagon RA, et al. Diamond-Blackfan anemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2022. PMID: 20301769 pubmed.ncbi.nlm.nih.gov/20301769/. Updated June 17, 2021. Accessed November 3, 2021.
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.
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.