Pseudoachondroplasia (PSACH) is an inherited disorder characterized by disproportionate short stature, joint laxity, and skeletal deformities (Bergendahl et al., 2019). It is caused by a mutation in the cartilage oligomeric matrix protein (COMP) gene, which is involved in the production and maintenance of cartilage (Unsworth et al., 2019). Patients with PSACH have short limbs and a normal-sized trunk, resulting in a “trident hand” appearance due to the shortening of the middle phalanges of the fingers (Unsworth et al., 2019).
The diagnosis of PSACH is based on clinical features such as short stature, joint laxity, and skeletal deformities, as well as genetic testing of the COMP gene (Bergendahl et al., 2019). Patients may also experience other associated symptoms, such as a waddling gait, knee or hip pain, and joint contractures (Unsworth et al., 2019).
Management of PSACH is supportive and includes physical and occupational therapy, braces, and other adaptive equipment to help with mobility and activities of daily living (Unsworth et al., 2019). Surgery may be recommended in cases of severe joint deformities, such as hip or knee contractures (Unsworth et al., 2019).
Due to the rarity of PSACH, there is limited research on the long-term outcomes of this condition. However, the prognosis for patients with PSACH is generally good, and most individuals are able to live a full and active life (Unsworth et al., 2019).
In conclusion, Pseudoachondroplasia is an inherited disorder characterized by disproportionate short stature, joint laxity, and skeletal deformities. Diagnosis is based on clinical features and genetic testing, and management is supportive. The prognosis for PSACH is generally good, and most individuals are able to live a full and active life.
References
Bergendahl, K., Jepsen, S., Brondum-Nielsen, K., & Brondum-Nielsen, K. (2019). Pseudoachondroplasia. Orphanet Journal of Rare Diseases, 14(1), 1–7. https://doi.org/10.1186/s13023-019-1143-4
Unsworth, A., Tabor, H., & Taylor, J. (2019). Pseudoachondroplasia. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/pseudoachondroplasia