National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pseudoachondroplasia is not the name you expected.
Pseudoachondroplasia (PSACH) is a short-limbed dwarfing condition characterized by disproportionate short stature, joint laxity, attractive face and early onset osteoarthritis. Joint laxity is marked in the fingers, wrists and elbows and knees. Joint pain is common at all ages with osteoarthritis occurring at an early age and affecting all the joints. Abnormal curvature of the spine (scoliosis) is an occasional complication. Intelligence is normal. Pseudoachondroplasia is caused by a mutation in the cartilage oligomeric matrix protein or COMP gene and is transmitted in an autosomal dominant pattern. Thirty percent of cases are familial with an affected parent transmitting the condition, while 70% occur as a random, new (de novo) mutation in COMP with no previous family history.
Pseudoachondroplasia was first described in 1959 by Drs. Maroteaux and Lamy and was originally believed to be a type of spondyloepiphyseal dysplasia. Also, although previously considered to be composed of at least four different forms, differentiated by severity and inheritance pattern, it has now considered a single, distinct disorder caused by mutations in the COMP gene.
European Skeletal Dysplasia Network
- Institute of Genetic Medicine
- Newcastle University
- Newcastle upon Tyne, NE1 3BZ
- United Kingdom
- Tel: 441612755642
- Fax: 441612755082
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- Website: http://www.esdn.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Human Growth Foundation
- 997 Glen Cove Avenue
- Suite 5
- Glen Head, NY 11545
- Tel: (516)671-4041
- Fax: (516)671-4055
- Tel: (800)451-6434
- Email: firstname.lastname@example.org
- Website: http://www.hgfound.org/
Little People of America, Inc.
- 250 El Camino Real Suite 201
- Tustin, CA 92780
- Tel: (714)368-3689
- Fax: (714)368-3367
- Tel: (888)572-2001
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- Website: http://www.lpaonline.org/
- 6645 W. North Avenue
- Oak Park, IL 60302
- Tel: (708)383-0808
- Fax: (708)383-0899
- Tel: (800)362-4423
- Email: firstname.lastname@example.org
- Website: http://www.magicfoundation.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or email@example.com
- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
Restricted Growth Association
- PO Box 5137
- Yeovil, BA20 9FF
- United Kingdom
- Tel: 3001111970
- Fax: 3001112454
- Email: firstname.lastname@example.org
- Website: http://www.restrictedgrowth.co.uk
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 11/20/2014
Copyright 2014 National Organization for Rare Disorders, Inc.
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