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Aplasia of the phalanges of the toes

MedGen UID:
866876
Concept ID:
C4021231
Finding
Synonyms: Absent bones of the toes; Aphalangia of the toes
 
HPO: HP:0010745

Definition

Absence of a digit or of one or more phalanges of a toe. [from HPO]

Professional guidelines

PubMed

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Kawabata H, Okuno K, Tamura D, Higuchi C, Goldfarb CA
J Pediatr Orthop 2023 Sep 1;43(8):522-528. Epub 2023 Jul 3 doi: 10.1097/BPO.0000000000002465. PMID: 37400088
Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639
Gallart J, González D, Valero J, Deus J, Serrano P, Lahoz M
BMC Musculoskelet Disord 2014 Sep 5;15:295. doi: 10.1186/1471-2474-15-295. PMID: 25192734Free PMC Article
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Fearon JA
Plast Reconstr Surg 2003 Jul;112(1):1-12; discussion 13-9. doi: 10.1097/01.PRS.0000065908.60382.17. PMID: 12832871

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Hirata Y, Shiiya C, Miyamoto J, Saito M
J Dermatol 2022 Sep;49(9):925-927. Epub 2022 Jun 6 doi: 10.1111/1346-8138.16486. PMID: 35670035
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
Pan Z, Lu W, Li X, Huang S, Dai P, Yuan Y
Am J Med Genet A 2020 Jun;182(6):1438-1448. Epub 2020 Apr 7 doi: 10.1002/ajmg.a.61583. PMID: 32259393
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L
J Med Genet 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. PMID: 8445623Free PMC Article

Therapy

Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
Ulusoy H
Rheumatol Int 2012 May;32(5):1379-82. Epub 2010 Mar 27 doi: 10.1007/s00296-010-1426-1. PMID: 20349070
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
Cohen PD, Lester RS
J Cutan Med Surg 1999 Oct;3(6):302-5. doi: 10.1177/120347549900300605. PMID: 10575159
Turan I
J Foot Surg 1990 Mar-Apr;29(2):176-8. PMID: 2338477

Prognosis

Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI
Am J Med Genet A 2008 Oct 1;146A(19):2557-65. doi: 10.1002/ajmg.a.32393. PMID: 18792985
Galois L, Mainard D, Delagoutte JP
Acta Orthop Belg 2002 Oct;68(4):376-80. PMID: 12415940
Nakashima T, Hojo T, Suzuki K, Ijichi M
Ann Anat 1995 May;177(3):275-8. doi: 10.1016/S0940-9602(11)80199-8. PMID: 7598223

Clinical prediction guides

Gallart J, González D, Valero J, Deus J, Serrano P, Lahoz M
BMC Musculoskelet Disord 2014 Sep 5;15:295. doi: 10.1186/1471-2474-15-295. PMID: 25192734Free PMC Article
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091
Nakashima T, Hojo T, Suzuki K, Ijichi M
Ann Anat 1995 May;177(3):275-8. doi: 10.1016/S0940-9602(11)80199-8. PMID: 7598223
Todd G, Saxe N
Arch Dermatol 1994 Jun;130(6):759-62. PMID: 8002647

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