Arthrogryposis Distal Type 2B

Common Name(s)

Arthrogryposis Distal Type 2B

Arthrogryposis, also known as arthrogryposis multiplex congenita (AMC), describes a variety of congenital (present at birth) disorders affecting an individual's joints. Each type of AMC is caused by mutation to a specific gene. Distal arthrogyposis Type 2B, sometimes called Sheldon-Hall syndrome, is one of the more common forms of AMC. The most common features of arthrogryposis type 2B are facial abnormalities, short stature, attached earlobes, and curling of the joints in the arms or legs. Individuals with this condition typically have normal mental capabilities and life expectancy. It can be diagnosed at birth or during a prenatal ultrasound. There is no specific treatment, but many patients benefit from early intervention including physical therapy and surgery.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Distal Type 2B" 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 Distal Type 2B" 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 Distal Type 2B" returned 1 free, full-text research articles on human participants. First 3 results:

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
 

Author(s): Sandy S Sung, Anna-Marie E Brassington, Patrycja A Krakowiak, John C Carey, Lynn B Jorde, Michael Bamshad

Journal: Am. J. Hum. Genet.. 2003 Jul;73(1):212-4.

 

Last Updated: 16 Jul 2003

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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 "Arthrogryposis Distal Type 2B" 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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