Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Common Name(s)

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show 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 "Arthrogryposis Renal Dysfunction Cholestasis Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.
 

Author(s): Seyed Mohsen Dehghani, Ali Bahador, Saman Nikeghbalian, Heshmatollah Salahi, Bita Geramizadeh, Abdorrasoul Malekpour, Seyed Ali Malek-Hosseini

Journal: Exp Clin Transplant. 2013 Jun;11(3):290-2.

 

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the ...

Last Updated: 17 Jun 2013

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Wide spectrum of clinical features in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome.
 

Author(s): Firouzeh Nili, Parvin Akbari-Asbaghe, Zohreh Oloomi-Yazdi, Niloofar Hadjizadeh, Fatemeh Nayeri, Elaheh Amini, Shahla Bahremand

Journal: Arch Iran Med. 2008 Sep;11(5):569-72.

 

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome is a rare multisystem disorder, originally described in 1973 and to date only 62 patients have been reported. Herein, we reported on a neonate with arthrogryposis-renal tubular dysfunction-cholestasis syndrome presenting ...

Last Updated: 1 Sep 2008

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Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.
 

Author(s): M T V Sanseverino, C F M de Souza, P Gissen, A O Sordi, J A Magalhães, L Schüler-Faccini

Journal: Ultrasound Obstet Gynecol. 2006 Aug;28(2):233-4.

 

Last Updated: 28 Aug 2006

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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 Renal Dysfunction Cholestasis Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.
 

Author(s): Neslihan Tekin, Sultan Durmuş-Aydoğdu, Ener Cağri Dinleyici, Ozcan Bör, Kismet Bildirici, Arif Akşit

Journal: Turk. J. Pediatr.. ;47(1):67-70.

 

We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction ...

Last Updated: 11 May 2005

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Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
 

Author(s): S P Horslen, O W Quarrell, M S Tanner

Journal: J. Med. Genet.. 1994 Jan;31(1):62-4.

 

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported ...

Last Updated: 10 May 1994

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.