Anemia, Blackfan Diamond
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
Synonyms of Anemia, Blackfan Diamond
- Aase-Smith II Syndrome
- Aase Syndrome
- Anemia, Congenital Pure Red Cell
- Aplasia, Congenital Pure Red Cell
- Congenital Hypoplastic Anemia
- Diamond-Blackfan Anemia
- Erythrogenesis Imperfecta
- Hypoplastic Congenital Anemia
- Inherited Erythroblastopenia
- No subdivisions found.
Blackfan-Diamond anemia (BDA) is a rare blood disorder that is caused by a failure of the bone marrow to generate enough red blood cells. It is characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) as well as slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades (scapulae), webbing or abnormal shortening of the neck due to fusion of certain bones in the spine (cervical vertebrae), hand deformities, congenital heart defects, and/or other abnormalities. The symptoms and physical findings associated with Blackfan-Diamond Anemia vary greatly from case to case.
Organizations related to Anemia, Blackfan Diamond
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1987, 1990, 1991, 1994, 1996, 1997, 1998, 1999, 2006, 2007
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.