Pseudoachondroplasia

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Description from OMIM

Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. Vertebral anomalies, present in childhood, usually resolve with age, but osteoarthritis is progressive and severe. PSACH and EDM1 comprise a clinical spectrum with phenotypic overlap between mild forms of PSACH and EDM1 (summary by Briggs and Chapman, 2002).



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Short stature skeletal 100 % 8725795 2014-04-23
Short limbs skeletal 100 % 8725795 2014-04-23
Genu varum skeletal 84 % 8725795 2014-04-23
Arthritis skeletal 63 % 8725795 2014-04-23
Arthralgia skeletal 53 % 8725795 2014-04-23
Scoliosis skeletal 49 % 8725795 2014-04-23
Lumbar lordosis skeletal 46 % 8725795 2014-04-23
Windswept deformity skeletal 16 % 8725795 2014-04-23
Cervical spine instability skeletal 16 % 8725795 2014-04-23
Genu valgum skeletal 15 % 8725795 2014-04-23
Kyphosis skeletal 6 % 8725795 2014-04-23



List of references:


Natural history study of pseudoachondroplasia.
J McKeand, J Rotta, J T Hecht,

Pseudoachondroplasia (PSACH) is a well-characterized autosomal dominant dwarfing condition. A great deal of information is available about orthopedic complications, but little is known about extraskeletal complications in adulthood. This study was undertaken to delineate the natural history of PSACH at all ages. Seventy-nine individuals responded to an extensive questionnaire that included information about deformities, operations, general health, chronic diseases, and reproduction. PSACH individuals were ascertained through the University of Texas Medical Genetics patient population, a genetic linkage study, and the social organization, Little People of America. The results show that PSACH individuals with a family history do not have a distinct or more severe phenotype than new mutation cases. There were not differences in the number of orthopedic complications, operations, or number of offspring between these two groups. Less than half of affected adults reported having total hip replacement surgery, which was less common than previously reported. Extraskeletal complications were generally uncommon. There were four cases of cancers in 41 individuals queried. Premature osteoarthritis was the major health problem for PSACH individuals. PSACH individuals are generally healthy but have problems associated with debilitating osteoarthritis.

American journal of medical genetics - May 1996