National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pseudoachondroplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
Restricted Growth Association
PO Box 5137
Yeovil, BA20 9FF
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
European Skeletal Dysplasia Network
Institute of Genetic Medicine
International Centre for Life
Newcastle upon Tyne, NE1 3BZ
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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
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Last Updated: 11/20/2014
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