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Popliteal pterygium

MedGen UID:
811750
Concept ID:
C3805420
Finding
HPO: HP:0009756

Definition

A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPopliteal pterygium

Conditions with this feature

Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
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.
Bartsocas-Papas syndrome 1
MedGen UID:
337894
Concept ID:
C1849718
Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Autosomal recessive omodysplasia
MedGen UID:
340513
Concept ID:
C1850318
Disease or Syndrome
Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of Omodysplasia Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
MedGen UID:
355340
Concept ID:
C1864965
Disease or Syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
MedGen UID:
401232
Concept ID:
C1867440
Disease or Syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018). An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene.
Bartsocas-Papas syndrome 2
MedGen UID:
1778443
Concept ID:
C5543445
Disease or Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).
Autosomal dominant popliteal pterygium syndrome
MedGen UID:
979785
Concept ID:
CN296406
Disease or Syndrome
Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical.

Professional guidelines

PubMed

Askarian S, Gholami M, Khalili-Tanha G, Tehrani NC, Joudi M, Khazaei M, Ferns GA, Hassanian SM, Avan A, Joodi M
Oral Maxillofac Surg 2023 Jun;27(2):177-186. Epub 2022 Apr 15 doi: 10.1007/s10006-022-01052-3. PMID: 35426585
Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'Heureux J, Zucchero TM, Marazita ML, Murray JC
Am J Med Genet A 2013 Oct;161A(10):2535-2544. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36133. PMID: 23949966Free PMC Article
Solignac N, Vialle R, Thévenin-Lemoine C, Damsin JP
Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. PMID: 19410531

Recent clinical studies

Etiology

Askarian S, Gholami M, Khalili-Tanha G, Tehrani NC, Joudi M, Khazaei M, Ferns GA, Hassanian SM, Avan A, Joodi M
Oral Maxillofac Surg 2023 Jun;27(2):177-186. Epub 2022 Apr 15 doi: 10.1007/s10006-022-01052-3. PMID: 35426585
Kousa YA, Fuller E, Schutte BC
J Invest Dermatol 2018 Dec;138(12):2578-2588. Epub 2018 Jun 18 doi: 10.1016/j.jid.2018.05.030. PMID: 29913133
Kousa YA, Mansour TA, Seada H, Matoo S, Schutte BC
Birth Defects Res 2017 Jan 30;109(2):169-179. doi: 10.1002/bdra.23598. PMID: 27933721
Kousa YA, Schutte BC
Dev Dyn 2016 Mar;245(3):220-32. Epub 2015 Sep 17 doi: 10.1002/dvdy.24341. PMID: 26332872Free PMC Article
Wong FK, Hagg U
Hong Kong Med J 2004 Oct;10(5):331-6. PMID: 15479962

Diagnosis

Turgut GT, Sarac Sivrikoz T, Komurcu-Bayrak E, Kalayci T
Eur J Med Genet 2023 Mar;66(3):104712. Epub 2023 Jan 28 doi: 10.1016/j.ejmg.2023.104712. PMID: 36720431
Sisti A, Freda N, Giacomina A, Gatti GL
J Craniofac Surg 2017 May;28(3):e250-e251. doi: 10.1097/SCS.0000000000003473. PMID: 28468208
Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ
Am J Med Genet A 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. PMID: 25691407Free PMC Article
Sasidharan CK, Ravi KV
Indian J Pediatr 2004 Mar;71(3):269-70. doi: 10.1007/BF02724282. PMID: 15080416
Deskin RW, Sawyer DG
Int J Pediatr Otorhinolaryngol 1988 Feb;15(1):17-22. doi: 10.1016/0165-5876(88)90046-8. PMID: 3372139

Therapy

Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
Mol Genet Genomic Med 2020 Aug;8(8):e1355. Epub 2020 Jun 17 doi: 10.1002/mgg3.1355. PMID: 32558391Free PMC Article
Boeckx W, Misani M, Vandermeeren L, Franck D, Zirak C, Demey A
J Reconstr Microsurg 2014 May;30(4):235-40. Epub 2014 Mar 28 doi: 10.1055/s-0033-1354735. PMID: 24683134
Solignac N, Vialle R, Thévenin-Lemoine C, Damsin JP
Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. PMID: 19410531
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article
Wong FK, Hagg U
Hong Kong Med J 2004 Oct;10(5):331-6. PMID: 15479962

Prognosis

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. PMID: 23154523Free PMC Article
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688
Bertelè G, Mercanti M, Gangini GN, Carletti V
Minerva Stomatol 2008 Jun;57(6):309-22. PMID: 18617879
Valnicek SM, Clarke HM
Cleft Palate Craniofac J 1993 Nov;30(6):582-5. doi: 10.1597/1545-1569_1993_030_0582_sarotc_2.3.co_2. PMID: 8280738
Froster-Iskenius UG
J Med Genet 1990 May;27(5):320-6. doi: 10.1136/jmg.27.5.320. PMID: 2352260Free PMC Article

Clinical prediction guides

Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
Mol Genet Genomic Med 2020 Aug;8(8):e1355. Epub 2020 Jun 17 doi: 10.1002/mgg3.1355. PMID: 32558391Free PMC Article
Hammond NL, Dixon J, Dixon MJ
Semin Cell Dev Biol 2019 Jul;91:75-83. Epub 2017 Aug 10 doi: 10.1016/j.semcdb.2017.08.021. PMID: 28803895
Kousa YA, Moussa D, Schutte BC
Dev Dyn 2017 Sep;246(9):670-681. Epub 2017 Jul 19 doi: 10.1002/dvdy.24537. PMID: 28643456Free PMC Article
Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. PMID: 23154523Free PMC Article
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article

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