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Pseudoachondroplasia

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD gratefully acknowledges Jacqueline T. Hecht, PhD, Professor and Division Head, Pediatric Research Center and Vice Chair for Research, Leah L. Lewis Distinguished Chair, Department of Pediatrics, UTHealth Medical School, Associate Dean for Research, UTHealth School of Dentistry, for assistance in the preparation of this report.

Synonyms of Pseudoachondroplasia

  • PSACH
  • spondyloepiphyseal dysplasia, type pseudoachondroplasia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
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.

Introduction
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.

Pseudoachondroplasia Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., short stature, skeletal abnormalities, etc.)

Organizations:

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