Small patella syndrome
 | It has been suggested that this article be merged into Ischiopatellar dysplasia. (Discuss) Proposed since July 2022. |
| Small patella syndrome | |
|---|---|
| Other names | Scott-Taor syndrome, Coxo-podo-patellar syndrome, Ischiopatellar dysplasia, Patella aplasia, coxa vara, tarsal synostosis, Congenital coxa vara, patella aplasia and tarsal synostosis ischiocoxopodopatellar syndrome.[1] |
| Specialty | Medical genetics |
| Symptoms | Patella, foot, and pelvic anomalies. |
| Complications | Gosarthrosis and recurrent subluxations |
| Usual onset | Childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prognosis | Good |
| Frequency | rare, around 50-70 cases have been described in medical literature |
| Deaths | - |
Small patella syndrome is a rare genetic limb malformation syndrome which is characterized by absence or underdevelopment of the patella, ischiopubic junction abnormal ossification (absent, delayed, or abnormal in itself). Other findings include hallux varus, brachymetatarsia affecting the fourth and fifth metatarsals, flat feet, and the presence of an elongated edial patellofemoral ligament.[2][3][4] Less common findings include micrognathia, cleft palate, frontal bossing and nose prominence.[5] Complications include infancy-onset recurrence of luxations, pain of the knee, impaired ability of running and riding bicycles, and late-onset gonarthrosis,[6] although it is not uncommon for some cases to be asymptomatic. This condition is caused by autosomal dominant mutations in the TBX4 gene, in chromosome 17.[7] Around 50-70 cases have been described in medical literature.[8] Diagnosis is made through genetic testing and radiography.[9]
References
- ^ "Small patella syndrome".
- ^ "Small patella syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-30.
- ^ Bongers, Ernie M. H. F.; Bokhoven, Hans Van; Thienen, Marie-Noëlle Van; Kooyman, Marinus a. P.; Beersum, Sylvia E. C. Van; Boetes, Carla; Knoers, Nine V. a. M.; Hamel, Ben C. J. (2001-03-01). "The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome". Journal of Medical Genetics. 38 (3): 209–214. doi:10.1136/jmg.38.3.209. ISSN 0022-2593. PMC 1734819. PMID 11303519.
- ^ Kim, Hyoung-Soo; MD; Yoo, Jeong-Hyun; MD; Park, Noh-Hyuck; MD; Chang, Jun-Hee; MD; Ban, Yun-Seong; MD; Song, and Sang-Heon (2016-03-30). "Magnetic Resonance Imaging Findings in Small Patella Syndrome". Knee Surgery & Related Research. 28 (1): 75–78. doi:10.5792/ksrr.2016.28.1.75. PMC 4779809. PMID 26955616.
- ^ "Small patella syndrome". Global Genes. Retrieved 2022-06-30.
- ^ "Orphanet: Search a disease". www.orpha.net. Retrieved 2022-06-30.
- ^ Bongers, Ernie M. H. F.; Duijf, Pascal H. G.; van Beersum, Sylvia E. M.; Schoots, Jeroen; van Kampen, Albert; Burckhardt, Andreas; Hamel, Ben C. J.; Lošan, František; Hoefsloot, Lies H.; Yntema, Helger G.; Knoers, Nine V. A. M. (2004-06-01). "Mutations in the Human TBX4 Gene Cause Small Patella Syndrome". The American Journal of Human Genetics. 74 (6): 1239–1248. doi:10.1086/421331. ISSN 0002-9297. PMC 1182087. PMID 15106123.
- ^ "OMIM Entry - # 147891 - Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ICPPS". omim.org. Retrieved 2022-06-30.
- ^ Kozlowski, Kazimierz; Nelson, John (1995-07-01). "Small patella syndrome". American Journal of Medical Genetics. 57 (4): 558–561. doi:10.1002/ajmg.1320570408. ISSN 0148-7299.