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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Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
 

Author(s): Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann

Journal: Eur. J. Hum. Genet.. 2014 Jun;22(6):726-33.

 

Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T>C, ...

Last Updated: 16 May 2014

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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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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: 5 Jun 2015

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