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Aplasia of the tarsal bones

MedGen UID:
866901
Concept ID:
C4021257
Anatomical Abnormality
Synonyms: Absent ankle bone; Absent tarsals
 
HPO: HP:0010509

Definition

Absence of the tarsal bones. [from HPO]

Conditions with this feature

Acheiropodia
MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).

Professional guidelines

PubMed

Xiu Y, Wang Y, He F, Zhang Y, Wang Y, Sun W, Wang B, Chen L
J Matern Fetal Neonatal Med 2023 Dec;36(1):2192323. doi: 10.1080/14767058.2023.2192323. PMID: 36948222
Chipman DE, Mackie AT, Doyle SM
Curr Opin Pediatr 2022 Feb 1;34(1):100-106. doi: 10.1097/MOP.0000000000001089. PMID: 34845154
Wynn M, Brady C, Cola K, Rice-Denning J
Iowa Orthop J 2019;39(1):45-49. PMID: 31413673Free PMC Article

Recent clinical studies

Etiology

Ferjani HL, Boussaa H, Maatallah K, Triki W, Nessib DB, Kaffel D, Hamdi W
J Am Podiatr Med Assoc 2023 Jan-Feb;113(1) doi: 10.7547/21-070. PMID: 36905616
Rammelt S, Manke E, Prescher A
Foot Ankle Int 2020 May;41(5):596-604. Epub 2020 Jan 28 doi: 10.1177/1071100720903298. PMID: 31989844
Achar S, Yamanaka J
Am Fam Physician 2019 May 15;99(10):610-618. PMID: 31083875
Klammer G, Espinosa N, Iselin LD
Foot Ankle Clin 2018 Sep;23(3):435-449. Epub 2018 Jun 28 doi: 10.1016/j.fcl.2018.04.011. PMID: 30097083
Mora S, Thordarson DB, Zionts LE, Reynolds RA
Foot Ankle Int 2001 Jun;22(6):471-7. doi: 10.1177/107110070102200603. PMID: 11475453

Diagnosis

Soni JF, Valenza W, Matsunaga C
Curr Opin Pediatr 2020 Feb;32(1):93-99. doi: 10.1097/MOP.0000000000000858. PMID: 31789975
Achar S, Yamanaka J
Am Fam Physician 2019 May 15;99(10):610-618. PMID: 31083875
Klammer G, Espinosa N, Iselin LD
Foot Ankle Clin 2018 Sep;23(3):435-449. Epub 2018 Jun 28 doi: 10.1016/j.fcl.2018.04.011. PMID: 30097083
Murphy JS, Mubarak SJ
Foot Ankle Clin 2015 Dec;20(4):681-91. Epub 2015 Oct 23 doi: 10.1016/j.fcl.2015.07.009. PMID: 26589086
Zaw H, Calder JD
Foot Ankle Clin 2010 Jun;15(2):349-64. doi: 10.1016/j.fcl.2010.02.003. PMID: 20534361

Therapy

Ráfare AL, Rodriguez BC, de Souza Ribeiro BF, Fernandes RMP, Babinski MA, Pires LAS
Surg Radiol Anat 2024 Jul;46(7):1137-1143. Epub 2024 May 23 doi: 10.1007/s00276-024-03389-8. PMID: 38780789
Alsager GA, Alzahrani K, Alshayhan F, Alotaibi RA, Murrad K, Arafah O
Ann Saudi Med 2022 Sep-Oct;42(5):327-333. Epub 2022 Oct 6 doi: 10.5144/0256-4947.2022.327. PMID: 36252147Free PMC Article
Tileston K, Baskar D, Frick SL
J Pediatr Orthop 2022 May-Jun 01;42(5):e448-e452. doi: 10.1097/BPO.0000000000002134. PMID: 35405728
Uglow MG
Foot Ankle Clin 2016 Sep;21(3):577-94. Epub 2016 Jun 29 doi: 10.1016/j.fcl.2016.04.005. PMID: 27524707
Reinherz RP, Smith BA, Henning KE
J Foot Surg 1990 Sep-Oct;29(5):432-5. PMID: 2258561

Prognosis

Song Q, Zeng X, Huang H, Long L, Xu J, Cui S, Li Z, Ma X
J Orthop Surg Res 2022 Oct 12;17(1):449. doi: 10.1186/s13018-022-03344-6. PMID: 36224613Free PMC Article
Rammelt S, Manke E, Prescher A
Foot Ankle Int 2020 May;41(5):596-604. Epub 2020 Jan 28 doi: 10.1177/1071100720903298. PMID: 31989844
Slim FJ, Faber WR, Maas M
Lepr Rev 2009 Dec;80(4):373-87. PMID: 20306636
Mora S, Thordarson DB, Zionts LE, Reynolds RA
Foot Ankle Int 2001 Jun;22(6):471-7. doi: 10.1177/107110070102200603. PMID: 11475453
Alter SA
Clin Podiatr Med Surg 1991 Jul;8(3):469-83. PMID: 1909928

Clinical prediction guides

Ellsworth BK, Kehoe C, DeFrancesco CJ, Bogner E, Mintz DN, Scher DM
J Pediatr Orthop 2022 Jul 1;42(6):e612-e615. Epub 2022 Mar 10 doi: 10.1097/BPO.0000000000002129. PMID: 35667053
Zhang Z, Lu Y, Cao JY, Wang L, Li LK, Wang C, Ye X, Ji YM, Tu LY, Sun Y
Mol Genet Genomic Med 2022 May;10(5):e1933. Epub 2022 Mar 25 doi: 10.1002/mgg3.1933. PMID: 35332702Free PMC Article
Masquijo JJ, Tourn D, Torres-Gomez A
Rev Esp Cir Ortop Traumatol (Engl Ed) 2019 Jan-Feb;63(1):20-23. Epub 2018 Dec 3 doi: 10.1016/j.recot.2018.08.003. PMID: 30522960
Murphy JS, Mubarak SJ
Foot Ankle Clin 2015 Dec;20(4):681-91. Epub 2015 Oct 23 doi: 10.1016/j.fcl.2015.07.009. PMID: 26589086
Mora S, Thordarson DB, Zionts LE, Reynolds RA
Foot Ankle Int 2001 Jun;22(6):471-7. doi: 10.1177/107110070102200603. PMID: 11475453

Recent systematic reviews

Stolarz K, Osiowski A, Preinl M, Osiowski M, Jasiewicz B, Taterra D
Surg Radiol Anat 2024 Oct;46(10):1731-1743. Epub 2024 Aug 13 doi: 10.1007/s00276-024-03459-x. PMID: 39136746Free PMC Article
Hollander JJ, Dusoswa QF, Dahmen J, Sullivan N, Kerkhoffs GMMJ, Stufkens SAS
Foot Ankle Surg 2022 Oct;28(7):1110-1119. Epub 2022 Mar 24 doi: 10.1016/j.fas.2022.03.011. PMID: 35397990
Zwiers R, de Leeuw PAJ, Kerkhoffs GMMJ, van Dijk CN
Knee Surg Sports Traumatol Arthrosc 2018 Jul;26(7):2131-2141. Epub 2017 Jun 28 doi: 10.1007/s00167-017-4613-8. PMID: 28660439Free PMC Article
van Leeuwen KD, Rogers J, Winzenberg T, van Middelkoop M
Br J Sports Med 2016 Aug;50(16):972-81. Epub 2015 Dec 7 doi: 10.1136/bjsports-2015-094695. PMID: 26644427
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572

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