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Dysplastic patella

MedGen UID:
Concept ID:
HPO: HP:0006446

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysplastic patella

Conditions with this feature

Autosomal recessive multiple pterygium syndrome
MedGen UID:
Concept ID:
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.

Professional guidelines


Weber AE, Nathani A, Dines JS, Allen AA, Shubin-Stein BE, Arendt EA, Bedi A
J Bone Joint Surg Am 2016 Mar 2;98(5):417-27. doi: 10.2106/JBJS.O.00354. PMID: 26935465
Sillanpää PJ, Mäenpää HM
Sports Med Arthrosc Rev 2012 Sep;20(3):128-35. doi: 10.1097/JSA.0b013e318256bbe5. PMID: 22878653

Recent clinical studies


Doco-Fenzy M, Landais E, Andrieux J, Schneider A, Delemer B, Sulmont V, Melin JP, Ploton D, Thevenard J, Monboisse JC, Belouadah M, Lefebvre F, Durlach A, Goossens M, Albuisson J, Motte J, Gaillard D
Eur J Med Genet 2008 Nov-Dec;51(6):598-607. Epub 2008 Sep 6 doi: 10.1016/j.ejmg.2008.08.002. PMID: 18822396
Kloeppel-Wirth S, Koltai JL, Dittmer H
Eur J Pediatr Surg 1992 Jun;2(3):169-72. doi: 10.1055/s-2008-1063432. PMID: 1498110

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