Acrocapitofemoral Dysplasia

Common Name(s)

Acrocapitofemoral Dysplasia

Description for this condition is not yet available.
 

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Condition Specific Organizations

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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 "Acrocapitofemoral Dysplasia" 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 "Acrocapitofemoral Dysplasia" returned 2 free, full-text research articles on human participants. First 3 results:

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
 

Author(s): Jan Hellemans, Paul J Coucke, Andres Giedion, Anne De Paepe, Peter Kramer, Frits Beemer, Geert R Mortier

Journal: Am. J. Hum. Genet.. 2003 Apr;72(4):1040-6.

 

Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genomewide homozygosity mapping in two consanguineous families ...

Last Updated: 21 Mar 2003

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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.
 

Author(s): G R Mortier, P P G Kramer, A Giedion, F A Beemer

Journal: J. Med. Genet.. 2003 Mar;40(3):201-7.

 

Last Updated: 7 Mar 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 "Acrocapitofemoral Dysplasia" 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.