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 86 free, full-text research articles on human participants. First 3 results:

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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Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.
 

Author(s): Kaisa Kyöstilä, Anu K Lappalainen, Hannes Lohi

Journal:

 

The skeletal dysplasias are disorders of the bone and cartilage tissues. Similarly to humans, several dog breeds have been reported to suffer from different types of genetic skeletal disorders. We have studied the molecular genetic background of an autosomal recessive chondrodysplasia ...

Last Updated: 2 Oct 2013

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Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.
 

Author(s): Amrita Roy, Pranab De, Swapna Chakraborty

Journal: Indian Pediatr. 2013 Jun;50(6):605-7.

 

We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures but without any biochemical abnormality. The mother of the baby developed Systemic Lupus Erythromatosus (SLE) with Ro/SSA ...

Last Updated: 14 Aug 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:

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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Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.
 

Author(s): Alan L Shanske, Larry Bernstein, Ronit Herzog

Journal: Pediatrics. 2007 Aug;120(2):e436-41.

 

Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A distinctive biochemical profile ...

Last Updated: 2 Aug 2007

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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

There are currently no related results available in GeneReviews.

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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: 8 Aug 2013

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