Chondrodysplasia

Common Name(s)

Chondrodysplasia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chondrodysplasia" 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 "Chondrodysplasia" returned 94 free, full-text research articles on human participants. First 3 results:

Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I.
 

Author(s): Ellinoora Aro, Antti M Salo, Richa Khatri, Mikko Finnilä, Ilkka Miinalainen, Raija Sormunen, Outi Pakkanen, Tiina Holster, Raija Soininen, Carina Prein, Hauke Clausen-Schaumann, Attila Aszódi, Juha Tuukkanen, Kari I Kivirikko, Ernestina Schipani, Johanna Myllyharju

Journal: J. Biol. Chem.. 2015 Jul;290(27):16964-78.

 

Collagen prolyl 4-hydroxylases (C-P4H-I, C-P4H-II, and C-P4H-III) catalyze formation of 4-hydroxyproline residues required to form triple-helical collagen molecules. Vertebrate C-P4Hs are α2β2 tetramers differing in their catalytic α subunits. C-P4H-I is the major isoenzyme in ...

Last Updated: 4 Jul 2015

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Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
 

Author(s): Abdullah Çim, Salih Coşkun, Orhan Görükmez, Hatice Yüksel, Ünal Uluca, Erminia Di Pietro, François Plourde, Nancy Elise Braverman

Journal: J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):69-72.

 

Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal ...

Last Updated: 24 Mar 2015

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The neurology of rhizomelic chondrodysplasia punctata.
 

Author(s): Annemieke M Bams-Mengerink, Johannes Htm Koelman, Hans Waterham, Peter G Barth, Bwee Tien Poll-The

Journal:

 

To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis ...

Last Updated: 2 Dec 2013

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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 "Chondrodysplasia" returned 4 free, full-text review articles on human participants. First 3 results:

Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.
 

Author(s): Sara E Patterson, Caroline N Dealy

Journal: Dev. Dyn.. 2014 Jul;243(7):875-93.

 

Chondrodysplasias are a group of genetic disorders that affect the development and growth of cartilage. These disorders can result in extreme short stature, craniofacial defects, joint malformation, and early osteoarthritis; severely impacting quality of life for affected individuals. ...

Last Updated: 17 Jun 2014

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Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.
 

Author(s): Steffan W Schulz, Michael Bober, Caitlyn Johnson, Nancy Braverman, Sergio A Jimenez

Journal: Semin. Arthritis Rheum.. 2010 Apr;39(5):410-6.

 

To describe the case of a mother with mixed connective tissue disease (MCTD) whose male and female offspring from 2 successive pregnancies had chondrodysplasia punctata (CDP) in the absence of identifiable biochemical or genetic abnormalities or teratogen exposure.

Last Updated: 23 Mar 2010

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Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.
 

Author(s): K M Argo, H V Toriello, R D Jelsema, L J Zuidema

Journal: Ultrasound Obstet Gynecol. 1996 Nov;8(5):350-4.

 

Chondrodysplasia punctata, a skeletal dysplasia with craniofacial dysmorphism and joint contractures can occur with rhizomelia, mesomelia or both. The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described that is associated ...

Last Updated: 19 Mar 1997

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
 

Status: Recruiting

Condition Summary: Peroxisome Biogenesis Disorders

 

Last Updated: 11 Dec 2015

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