U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital pseudoarthrosis of the tibia

MedGen UID:
539398
Concept ID:
C0265661
Disease or Syndrome
Synonyms: Congenital pseudarthrosis of the tibia; congenital pseudarthrosis of the tibia; Congenital Pseudarthrosis of Tibia; congenital pseudarthrosis of tibia; congenital pseudoarthrosis of the tibia; Congenital pseudoarthrosis of tibia
SNOMED CT: Congenital pseudoarthrosis of tibia (55379003)
 
Monarch Initiative: MONDO:0017462
Orphanet: ORPHA295018

Definition

A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital pseudoarthrosis of the tibia
Follow this link to review classifications for Congenital pseudoarthrosis of the tibia in Orphanet.

Professional guidelines

PubMed

Memeo A, Verdoni F, Minoli CF, Voto A, D'Amato RD, Formiconi F, Priano D, Montanari L, Panuccio E
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 3):431-440. Congress of the Italian Orthopaedic Research Society. PMID: 33261306
Iamaguchi RB, Fucs PM, Carlos da Costa A, Chakkour I, Gomes MD
J Pediatr Orthop B 2011 Sep;20(5):323-9. doi: 10.1097/BPB.0b013e328347a361. PMID: 21691227
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Recent clinical studies

Etiology

Li Y, Li J, Gan T, Geng Q, Ma X, Yin S, Wu Y, Fang X, Xie H, Zhang H
Orthop Surg 2024 Sep;16(9):2191-2201. Epub 2024 Aug 26 doi: 10.1111/os.14189. PMID: 39187975Free PMC Article
Enemudo RE, Edomwonyi EO, Obumse AT, Uyilawa O
Niger J Clin Pract 2023 Mar;26(3):352-357. doi: 10.4103/njcp.njcp_608_22. PMID: 37056112
Xu S, Liu Y, Zhu G, Liu K, Tang J, Wu J, Yan A, Jiang F, Mo S, Mei H
J Orthop Surg Res 2022 Mar 5;17(1):142. doi: 10.1186/s13018-022-03021-8. PMID: 35248095Free PMC Article
Agashe MV, Song SH, Refai MA, Park KW, Song HR
Acta Orthop 2012 Oct;83(5):515-22. Epub 2012 Oct 8 doi: 10.3109/17453674.2012.736170. PMID: 23043268Free PMC Article
Paley D, Catagni M, Argnani F, Prevot J, Bell D, Armstrong P
Clin Orthop Relat Res 1992 Jul;(280):81-93. PMID: 1611768

Diagnosis

Li Y, Li J, Gan T, Geng Q, Ma X, Yin S, Wu Y, Fang X, Xie H, Zhang H
Orthop Surg 2024 Sep;16(9):2191-2201. Epub 2024 Aug 26 doi: 10.1111/os.14189. PMID: 39187975Free PMC Article
Cardier JE, Diaz-Solano D, Wittig O, Sierra G, Pulido J, Moreno R, Fuentes S, Leal F
Int J Artif Organs 2024 Feb;47(2):107-114. Epub 2024 Jan 5 doi: 10.1177/03913988231220844. PMID: 38182554
Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Muhammad Abdul Jamil MK, Abdul Rashid AH, Ibrahim S
J Pediatr Orthop B 2013 May;22(3):207-12. doi: 10.1097/BPB.0b013e32834ecc01. PMID: 22182834

Therapy

Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Das SP, Ganesh S, Pradhan S, Singh D, Mohanty RN
Int Orthop 2014 Sep;38(9):1987-92. Epub 2014 May 15 doi: 10.1007/s00264-014-2361-7. PMID: 24827969
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Muhammad Abdul Jamil MK, Abdul Rashid AH, Ibrahim S
J Pediatr Orthop B 2013 May;22(3):207-12. doi: 10.1097/BPB.0b013e32834ecc01. PMID: 22182834
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Prognosis

Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Muhammad Abdul Jamil MK, Abdul Rashid AH, Ibrahim S
J Pediatr Orthop B 2013 May;22(3):207-12. doi: 10.1097/BPB.0b013e32834ecc01. PMID: 22182834
Iamaguchi RB, Fucs PM, Carlos da Costa A, Chakkour I, Gomes MD
J Pediatr Orthop B 2011 Sep;20(5):323-9. doi: 10.1097/BPB.0b013e328347a361. PMID: 21691227
Lehman WB, Abdelgawad AA, Sala DA
J Pediatr Orthop B 2009 Sep;18(5):211-3. doi: 10.1097/BPB.0b013e32832fbec6. PMID: 19625879
Paley D, Catagni M, Argnani F, Prevot J, Bell D, Armstrong P
Clin Orthop Relat Res 1992 Jul;(280):81-93. PMID: 1611768

Clinical prediction guides

Li Y, Li J, Gan T, Geng Q, Ma X, Yin S, Wu Y, Fang X, Xie H, Zhang H
Orthop Surg 2024 Sep;16(9):2191-2201. Epub 2024 Aug 26 doi: 10.1111/os.14189. PMID: 39187975Free PMC Article
Cardier JE, Diaz-Solano D, Wittig O, Sierra G, Pulido J, Moreno R, Fuentes S, Leal F
Int J Artif Organs 2024 Feb;47(2):107-114. Epub 2024 Jan 5 doi: 10.1177/03913988231220844. PMID: 38182554
Khmyzov SO, Katsalap YS, Karpinsky MJ, Karpinska O
Wiad Lek 2022;75(9 pt 1):2112-2120. doi: 10.36740/WLek202209112. PMID: 36256938
Agashe MV, Song SH, Refai MA, Park KW, Song HR
Acta Orthop 2012 Oct;83(5):515-22. Epub 2012 Oct 8 doi: 10.3109/17453674.2012.736170. PMID: 23043268Free PMC Article
Iamaguchi RB, Fucs PM, Carlos da Costa A, Chakkour I, Gomes MD
J Pediatr Orthop B 2011 Sep;20(5):323-9. doi: 10.1097/BPB.0b013e328347a361. PMID: 21691227

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...