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.
University Of Kansas Hospital Authority
Gary Doolittle is a Hematologist Oncology specialist and an Oncologist in Fairway, Kansas. Dr. Doolittle and is rated as an Advanced provider by MediFind in the treatment of Aase Syndrome. His top areas of expertise are Melanoma, Merkel Cell Carcinoma, Rhabdomyosarcoma Embryonal, and Bone Tumor. Dr. Doolittle is currently accepting new patients.
Great Plains Of Ellinwood Inc
Christopher Brown is a Family Medicine provider in Ellinwood, Kansas. Dr. Brown and is rated as an Experienced provider by MediFind in the treatment of Aase Syndrome. His top areas of expertise are Pneumonia, Hypothyroidism, Vertigo, and Pyridoxine Deficiency. Dr. Brown is currently accepting new patients.
Heartland Dermatology And Skin Cancer Center, PA
Matthew Shaffer is a Dermatologist in Salina, Kansas. Dr. Shaffer and is rated as an Experienced provider by MediFind in the treatment of Aase Syndrome. His top areas of expertise are Sunburn, Actinic Keratosis, Basal Cell Skin Cancer, and Warts. Dr. Shaffer is currently accepting new patients.
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-...
Background: Diamond-Blackfan anemia (DBA) is an inherited disease that affects the bone marrow. People with DBA have chronic anemia that can be severe. Many must have frequent transfusions of red blood cells. Current treatments for DBA all have risks of serious side effects. Better treatments are needed.
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.