Achondrogenesis

Common Name(s)

Achondrogenesis

Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Achondrogenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Achondrogenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Achondrogenesis" returned 17 free, full-text research articles on human participants. First 3 results:

Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
 

Author(s): H S Lee, J W Doh, C J Kim, J G Chi

Journal: J. Korean Med. Sci.. 2000 Oct;15(5):604-8.

 

Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck ...

Last Updated: 2 Feb 2001

Go To URL
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography.
 

Author(s): H S Won, H K Yoo, P R Lee, I S Lee, A Kim, J H Nam, J E Mok

Journal: Ultrasound Obstet Gynecol. 1999 Oct;14(4):288-90.

 

Last Updated: 21 Dec 1999

Go To URL
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma.
 

Author(s): S Ozeren, A Yüksel, T Tükel

Journal: Ultrasound Obstet Gynecol. 1999 Jan;13(1):75-6.

 

Last Updated: 3 Jun 1999

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Achondrogenesis" returned 1 free, full-text review articles on human participants. First 3 results:

Achondrogenesis type 1B.
 

Author(s): A Superti-Furga

Journal: J. Med. Genet.. 1996 Nov;33(11):957-61.

 

Last Updated: 13 Mar 1997

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.