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Fibular dimelia-diplopodia syndrome

MedGen UID:
929427
Concept ID:
C4303758
Disease or Syndrome
Synonyms: Fibular dimelia diplopodia syndrome; fibular dimelia-diplopodia syndrome; Leg duplication mirror foot syndrome; Leg duplication-mirror foot syndrome; leg duplication-mirror foot syndrome
SNOMED CT: Leg duplication mirror foot syndrome (720953006); Fibular dimelia diplopodia syndrome (720953006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015773
Orphanet: ORPHA1757

Definition

Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibular dimelia-diplopodia syndrome

Professional guidelines

PubMed

Bregman PJ, Schuenke MJ
J Foot Ankle Surg 2016 May-Jun;55(3):668-74. Epub 2016 Feb 12 doi: 10.1053/j.jfas.2015.11.005. PMID: 26878807
Poage C, Roth C, Scott B
J Am Acad Orthop Surg 2016 Jan;24(1):1-10. doi: 10.5435/JAAOS-D-14-00420. PMID: 26700629
Parekh R, Care DA, Tainter CR
Emerg Med Pract 2012 Mar;14(3):1-15; quiz 15. PMID: 22497086

Recent clinical studies

Therapy

Du W, Zhou W, Zhou L, Wang Y, Yan C, Al-Aroomi MA, Pang P, Sun C
J Plast Reconstr Aesthet Surg 2023 Aug;83:207-214. Epub 2023 Apr 24 doi: 10.1016/j.bjps.2023.04.048. PMID: 37276738
Golse M, Barat M, Costedoat-Chalumeau N, Revel MP
Radiology 2021 Oct;301(1):242-246. doi: 10.1148/radiol.2021203174. PMID: 34543144
Fishman LM, Wilkins AN, Rosner B
Muscle Nerve 2017 Aug;56(2):258-263. Epub 2017 Apr 2 doi: 10.1002/mus.25504. PMID: 27935076
Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Fruehwald M, Suttorp M, Simon T, Werner M, Bielack S
Pediatr Hematol Oncol 2015 Feb;32(1):32-40. Epub 2014 Dec 31 doi: 10.3109/08880018.2014.987939. PMID: 25551679
Parekh R, Care DA, Tainter CR
Emerg Med Pract 2012 Mar;14(3):1-15; quiz 15. PMID: 22497086

Prognosis

Gohritz A, Dellon AL
Ann Plast Surg 2024 Sep 1;93(3):279-282. Epub 2024 May 31 doi: 10.1097/SAP.0000000000003968. PMID: 38833691
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M
Ital J Pediatr 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. PMID: 28774346Free PMC Article
Poage C, Roth C, Scott B
J Am Acad Orthop Surg 2016 Jan;24(1):1-10. doi: 10.5435/JAAOS-D-14-00420. PMID: 26700629

Clinical prediction guides

Gohritz A, Dellon AL
Ann Plast Surg 2024 Sep 1;93(3):279-282. Epub 2024 May 31 doi: 10.1097/SAP.0000000000003968. PMID: 38833691
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Cazzato RL, Auloge P, Dalili D, De Marini P, Di Marco A, Garnon J, Gangi A
AJR Am J Roentgenol 2019 Nov;213(5):1157-1162. Epub 2019 Jul 16 doi: 10.2214/AJR.19.21390. PMID: 31310180
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M
Ital J Pediatr 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. PMID: 28774346Free PMC Article

Recent systematic reviews

Muhlestein WE, Wilson TJ
Acta Neurochir (Wien) 2023 Sep;165(9):2597-2604. Epub 2023 Aug 16 doi: 10.1007/s00701-023-05744-x. PMID: 37587319
Du W, Zhou W, Zhou L, Wang Y, Yan C, Al-Aroomi MA, Pang P, Sun C
J Plast Reconstr Aesthet Surg 2023 Aug;83:207-214. Epub 2023 Apr 24 doi: 10.1016/j.bjps.2023.04.048. PMID: 37276738
Fisse AL, Katsanos AH, Gold R, Krogias C, Pitarokoili K
Eur J Neurol 2021 Jul;28(7):2313-2318. Epub 2021 May 7 doi: 10.1111/ene.14850. PMID: 33794049
Barbosa ABM, Santos PVD, Targino VA, Silva NA, Silva YCM, Gomes FB, Assis TO
Arq Neuropsiquiatr 2019;77(9):646-653. Epub 2019 Sep 23 doi: 10.1590/0004-282X20190093. PMID: 31553395

Supplemental Content

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