Print friendly version
Achondrogenesis type 1A
Other Names for this Disease
- Achondrogenesis Houston-Harris type
- Houston-Harris achondrogenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
Last updated: 10/18/2013
- Achondrogenesis. Genetics Home Reference. February, 2008; http://ghr.nlm.nih.gov/condition/achondrogenesis. Accessed 10/25/2010.
- Faivre L. and Cormier-Daire V.. Achondrogenesis. Orphanet. May, 2003; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=932. Accessed 10/24/2010.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Achondrogenesis type 1A. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Achondrogenesis type 1A. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Achondrogenesis type 1A. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Achondrogenesis type 1A. Click on the link to view a sample search on this topic.