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Acral Dysostosis Dyserythropoiesis

What is Acral Dysostosis Dyserythropoiesis?

Acral Dysostosis Dyserythropoiesis is a rare, inherited disorder whose symptoms include a form of anemia characterized by the production of abnormal red blood cells and defects of the hand and foot.

This disorder is one of many types of congenital dyserythropoietic anaemia (CDA). Complex bone disease has only occasionally been associated with this disease.

What are the symptoms of Acral Dysostosis Dyserythropoiesis?

Common symptoms of Acral Dysostosis Dyserythropoiesis include the following:
  • Hand defects
  • Foot defects
  • Anemia
  • Jaundice
  • Enlarged liver
  • Enlarged spleen
  • Abnormal red blood cells

What causes Acral Dysostosis Dyserythropoiesis?

Acral Dysostosis Dyserythropoiesis has been shown to be caused by mutations in the CDAN1 gene. The association of congential dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.

How is Acral Dysostosis Dyserythropoiesis diagnosed?

Acral Dysostosis Dyserythropoiesis is diagnosed with ultrasound, x-ray and blood tests.

What are the treatments for Acral Dysostosis Dyserythropoiesis?

Treatment for Acral Dysostosis Dyserythropoiesis includes: Medications, such as iron chelating agents or interferon alpha-2A (only in CDA type I), apheresis and blood transfusions. Some types of surgical options are available which might include removal of the spleen or the gallbladder, or both.

Where can I find out more about Acral Dysostosis Dyserythropoiesis?

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Acral dysostosis dyserythropoiesis syndrome. Click on the link to view a sample search on this topic.

Acral Dysostosis Dyserythropoiesis Articles