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GTR Home > Conditions/Phenotypes > Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Synonyms
Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: COMP-Related Pseudoachondroplasia
COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with COMP-PSACH eventually require hip replacement surgery.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Michael D Briggs
Michael J Wright
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Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5, COMP
    Summary: cartilage oligomeric matrix protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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