IFAP syndrome with or without BRESHECK syndrome

Common Name(s)

IFAP syndrome with or without BRESHECK syndrome

The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by {12:Naiki et al., 2012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "IFAP syndrome with or without BRESHECK 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 "IFAP syndrome with or without BRESHECK syndrome" returned 0 free, full-text research articles on human participants.

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Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "IFAP syndrome with or without BRESHECK 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

There are currently no open clinical trials for this condition.