Aase-Smith Syndrome

Common Name(s)

Aase-Smith Syndrome, Aase Smith Syndrome I

Aase-Smith syndrome type I is a very rare autosomoal dominant genetic disorder. Babies with Aase-Smith Syndrome I are born with hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Their fingers are thin with absent knuckles and fewer creases over the joints. Additional findings may include deformed ears, drooping of eyelids (ptosis), an inability to open the mouth fully, heart defects, and clubfoot. Many of the symptoms overlap with Gordon Syndrome.

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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-Smith Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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-Smith Syndrome" returned 0 free, full-text research articles on human participants.

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The terms "Aase-Smith 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: 20 Dec 2016

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