Aase Syndrome Overview
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.
Johns Hopkins All Children's Outpatient Care, St. Petersburg
Dr. Vlachos is the chief of hematology in the Johns Hopkins All Children’s Hospital Cancer & Blood Disorders Institute in St. Petersburg, Florida, and professor of pediatrics (PAR) in the Johns Hopkins University School of Medicine. She joined the hospital staff in 2024. She was previously professor of pediatrics at Zucker School of Medicine at Hofstra/Northwell and attending physician in hematology/oncology at Cohen Children’s Medical Center/Northwell Health, where she was head of the Bone Marrow Failure Program and head of the pediatric hematology/oncology trials office. Dr. Vlachos is internationally known for clinical care and expertise in bone marrow failure syndromes and her transformational research in Diamond Blackfan anemia (DBA) syndrome, a rare inherited bone marrow failure syndrome. Dr. Vlachos is the founder and has directed the Diamond Blackfan Anemia Registry (DBAR) of North America since its inception in 1991. She is the principal investigator and co-investigator on multiple grants funded by the National Institute of Health and the Centers for Disease Control and Prevention. She has published numerous articles on her research findings and has been invited to author papers and book chapters on bone marrow failure syndromes and DBA. Dr. Vlachos is a member of the Medical and Scientific Advisory Board for the Shwachman-Diamond Syndrome Registry, is a member of the Scientific Advisory Board for the Diamond Blackfan Anemia Foundation and holds a position on the Scientific Program Committee for Bone Marrow Failure of the American Society of Hematology. She earned her medical degree from New York Medical College in Valhalla, New York. She completed her residency in pediatrics at North Shore University Hospital in Manhasset, New York. She then completed a clinical fellowship in bone marrow transplantation at North Shore University Hospital, followed by a fellowship in pediatric hematology-oncology and bone marrow transplantation at Mount Sinai Medical Center in New York. Videos Bone Marrow Failure Syndrome Expert Dr. Adrianna Vlachos at Johns Hopkins All Children’s. 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.
Northwell Health Pediatric Hematology/Oncology & Stem Cell Transplant
Jeffrey Lipton is a Pediatric Hematologist Oncology provider in New Hyde Park, New York. Dr. Lipton is rated as an Elite provider by MediFind in the treatment of Aase Syndrome. His top areas of expertise are Aase Syndrome, Pure Red Cell Aplasia, Transient Erythroblastopenia of Childhood, Aplastic Anemia, and Bone Marrow Transplant.
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.
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.
Summary: The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). ...
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: 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.

