Arthrogryposis Multiplex Congenita Whistling Face

Common Name(s)

Arthrogryposis Multiplex Congenita Whistling Face

Arthrogryposis Multiplex Congenita Whistling Face is an extremely rare disorder, and has only been reported in ten individuals thus far. It is also known as Illum syndrome. This disorder affects both the central nervous system and the autonomous system, meaning that it disrupts the signals sent from the brain to the rest of the body. Individuals with this disorder also have difficulty forming facial expressions, and may experience epileptic seizures, bradycardia (a very slow heartbeat), and severe developmental delays. The life expectancy for a person with arthrogryposis multiplex congenita whistling face is typically only a few months.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Multiplex Congenita Whistling Face" for support, advocacy or research.

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

Last Updated: 11 Jul 2011

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Multiplex Congenita Whistling Face" for support, advocacy or research.

Logo
Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

http://fsrgroup.org

Last Updated: 11 Jul 2011

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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 "Arthrogryposis Multiplex Congenita Whistling Face" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

 

Last Updated: 5 Apr 2017

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