Learn About Aase Syndrome

What is the definition of Aase Syndrome?

Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.

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What are the alternative names for Aase Syndrome?

Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type; Diamond-Blackfan with AS-II

What are the causes of Aase 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.

What are the symptoms of Aase Syndrome?

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
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What are the current treatments for Aase Syndrome?

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.

Who are the top Aase Syndrome Local Doctors?
Elite
Highly rated in
8
conditions
Pediatric Hematology Oncology
Pediatrics

Northwell Health

Pediatric Hematology/Oncology

269-01 76th Ave 
Queens, NY 11040

Adrianna Vlachos is a Pediatric Hematologist Oncology specialist and a Pediatrics doctor in Queens, New York. Dr. Vlachos has been practicing medicine for over 36 years and is rated as an Elite doctor by MediFind in the treatment of Aase Syndrome. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Aase Syndrome, Pure Red Cell Aplasia, Aplastic Anemia, and Transient Erythroblastopenia of Childhood. She is licensed to treat patients in New York. Dr. Vlachos is currently accepting new patients.

Elite
Highly rated in
16
conditions
Pediatric Hematology Oncology
Pediatrics

Northwell Health

CCMC Of NY Division Of Hem/Onc & Stem Cell Transplantation

269-01 76th Ave 
Queens, NY 11040

Jeffrey Lipton is a Pediatric Hematologist Oncology specialist and a Pediatrics doctor in Queens, New York. Dr. Lipton has been practicing medicine for over 47 years and is rated as an Elite doctor by MediFind in the treatment of Aase Syndrome. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Pure Red Cell Aplasia, Aase Syndrome, Aplastic Anemia, and Transient Erythroblastopenia of Childhood. He is licensed to treat patients in New York.

 
 
 
 
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Elite
Highly rated in
6
conditions
Pediatric Hematology Oncology
Hematology
Oncology

Stanford Childrens Health

Pediatric Hematology/Oncology

1000 Welch Rd 
Palo Alto, CA 94304

Anupama Narla is a Pediatric Hematologist Oncology specialist and a Hematologist in Palo Alto, California. Dr. Narla has been practicing medicine for over 19 years and is rated as an Elite doctor by MediFind in the treatment of Aase Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Aase Syndrome, Pure Red Cell Aplasia, Aplastic Anemia, and Transient Erythroblastopenia of Childhood. She is licensed to treat patients in Massachusetts and California. Dr. Narla is currently accepting new patients.

What is the outlook (prognosis) for Aase Syndrome?

The anemia tends to improve with age.

What are the possible complications of Aase Syndrome?

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.

How do I prevent Aase Syndrome?

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

What are the latest Aase Syndrome Clinical Trials?
A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations
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CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease
What are the Latest Advances for Aase Syndrome?
Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.
Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report.
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Diamond-Blackfan anemia.
Who are the sources who wrote this article ?

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.

What are the references for this article ?

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.