Aase syndrome

Common Name(s)

Aase syndrome, Diamond-Blackfan Anemia 6, Aase Smith Syndrome II

Aase Syndrome is a rare genetic disorder characterized by hypoplastic anemia, and joint and skeletal deformities. The most prominent joint deformity is the presence of three bones within the thumb, known as a triphalangeal thumb. In Aase Syndrome, the anemia is due to poor development of bone marrow [the center for production of red blood cells]. Other symptoms associated with this disorder include the absence of/or small knuckle bones, contracture deformities associated with the joints, decreased skin creases at finger joints, and a cleft palate. The exact causes of Aase Syndrome are unknown, but recent evidence suggests that the condition can be inherited as an autosomal recessive trait.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aase syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aase syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

The Aase syndrome in a female infant.
 

Author(s): M C Higginbottom, K L Jones, F H Kung, T K Koch, J L Boyer

Journal: J. Med. Genet.. 1978 Dec;15(6):484-6.

 

This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes ...

Last Updated: 23 May 1979

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aase syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
 

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia

 

Last Updated: 27 Mar 2014

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