Grebe syndrome

Common Name(s)

Grebe syndrome, Chondrodysplasia, Grebe Type

Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by {19:Thomas et al., 1997}).
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Grebe 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 "Grebe syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Grebe syndrome.
 

Author(s): D Saminathan

Journal: Indian Pediatr. 2010 Sep;47(9):791.

 

Last Updated: 31 Dec 1969

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Grebe syndrome: a second case with extremely severe manifestations.
 

Author(s): M Rittler, S Higa

Journal: J. Med. Genet.. 1997 Dec;34(12):1038.

 

Last Updated: 31 Dec 1969

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Grebe syndrome: a very severely affected case.
 

Author(s): M L Kulkarni, B Kumar, A Nasser, B M Kulkarni

Journal: J. Med. Genet.. 1995 Apr;32(4):326-7.

 

Last Updated: 31 Dec 1969

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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 "Grebe 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.