Ischiopatellar dysplasia

From WikiMD's Wellness Encyclopedia

Synonyms N/A
Pronounce
Field
Symptoms
Complications N/A
Onset
Duration
Types N/A
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis N/A
Frequency
Deaths


Ischiopatellar dysplasia is a rare autosomal dominant[2] disorder characterized by a hypoplasia of the patellae as well as other bone anomalies, especially concerning the pelvis and feet.[3]

Signs and symptoms[edit | edit source]

Individuals affected by ischiopatellar dysplasia commonly have abnormalities of the patella and pelvic girdle,[4] such as absent or delayed patellar and ischial ossification as well as infra-acetabular axe-cut notches.[5][6][7] Patellae are typically absent or small in these individuals, when patellae are present they are small and laterally displaced or dislocated.[8] In addition, abnormalities in other parts of their skeleton and dysmorphic features are common in those affected.[9][10] Other features that have been identified in patients with ischiopatellar dysplasia include foot anomalies,[11] specifically flat feet (pes planus), syndactylism of the toes,[12] short fourth and fifth toes, and a large gap between the first and second toes,[13][14] femur anomalies,[15] cleft palate,[16] and craniofacial dysmorphisms.[17][18]

Causes[edit | edit source]

Ischiopatellar dysplasia is often considered a familial condition.[19][20][21][22] Ischiopatellar dysplasia has been identified on region 5.6 cM on chromosome 17q22. Mutations in the TBX4 (T-box protein 4) gene have been found to cause ischiopatellar dysplasia due to the essential role TBX4 plays in lower limb development since TBX4 is a transcription factor.[23]

Diagnosis[edit | edit source]

Ischiopatellar dysplasia is usually identified through radiographic evidence since its characteristic changes are most notable in radiographic tests that indicate delayed boneage or absent ossification.[24] A full skeletal survey should be performed on any patient that has an absent or hypoplastic patellae since they could potentially have ischiopatellar dysplasia. Magnetic resonance imaging (MRI) is especially helpful in the diagnosis of ischiopatellar syndrome and is recommended when an individual affected by ischiopatellar dysplasia has a traumatic injury to the knee.[25]

Management[edit | edit source]


History[edit | edit source]

Ischiopatellar dysplasia is sometimes referred to as Scott-Taor syndrome after the researchers who first described ischiopatellar dysplasia as they recognized it in a family as an autosomal dominant disorder in 1979.[26] This finding was important as they were the first to note that it was a benign disorder that is separate from the more severe nail-patella syndrome.[27] Other common names for ischiopatellar syndrome are small patella syndrome (SPS), since the patellae are often small or absent in patients who have this syndrome, and coxo-podo-patellaire syndrome.[28][29][30]

References[edit | edit source]

  1. ↑ INSERM US14. "Orphanet: Ischiopatellar dysplasia". www.orpha.net. Retrieved 16 December 2017.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  3. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  4. ↑ Scott JE, Taor WS. The “small patella” syndrome. J Bone Joint Surg Br. 1979;61:172–175.
  5. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  6. ↑ Kozlowski K, Nelson J. Small patella syndrome. Am J Med Genet. 1995;57:558–561.
  7. ↑ Bongers EM, Van Bokhoven H, Van Thienen M, Kooyman M, Van Beersym S, Boetes C, Knoers N, Hamel B. 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. J Med Genet 2001;38:209-214.
  8. ↑ Scott JE, Taor WS. The “small patella” syndrome. J Bone Joint Surg Br. 1979;61:172–175.
  9. ↑ Kozlowski K, Nelson J. Small patella syndrome. Am J Med Genet. 1995;57:558–561.
  10. ↑ Azouz EM, Kozlowski K. Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol. 1997;27:432–435.
  11. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  12. ↑ Scott JE, Taor WS. The “small patella” syndrome. J Bone Joint Surg Br. 1979;61:172–175.
  13. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  14. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  15. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  16. ↑ Kozlowski K, Nelson J. Small patella syndrome. Am J Med Genet. 1995;57:558–561.
  17. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  18. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  19. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  20. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  21. ↑ Bongers EM, Van Bokhoven H, Van Thienen M, Kooyman M, Van Beersym S, Boetes C, Knoers N, Hamel B. 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. J Med Genet 2001;38:209-214.
  22. ↑ Burckhardt A. The small patella syndrome. Z Orthop 1988;126:22–29.
  23. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  24. ↑ Kozlowski K, Nelson J. Small patella syndrome. Am J Med Genet. 1995;57:558–561.
  25. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  26. ↑ Azouz EM, Kozlowski K. Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol. 1997;27:432–435.
  27. ↑ Scott JE, Taor WS. The “small patella” syndrome. J Bone Joint Surg Br. 1979;61:172–175.
  28. ↑ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239–1248.
  29. ↑ Kim H-S, Yoo J-H, Park N-H, Chang J-H, Ban Y-S, Song S-H. Magnetic Resonance Imaging Findings in Small Patella Syndrome. Knee Surgery & Related Research. 2016;28(1):75-78.
  30. ↑ Kozlowski K, Nelson J. Small patella syndrome. Am J Med Genet. 1995;57:558–561.
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.com/w/index.php?title=Ischiopatellar_dysplasia&oldid=5259544"

Contributors: Prab R. Tumpati, MD