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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

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
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
Prenatal sonographic diagnosis of Aarskog syndrome.
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

Donor Foot Morbidity Following Nonvascularized Toe Phalanx Transfer Utilizing a New Reconstruction Technique.
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
Polydactyly, postaxial, type B.
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
Biphalangeal/triphalangeal fifth toe and impact in the pathology of the fifth ray.
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
The spectrum of preaxial polydactyly of the foot.
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
The management of brachymetatarsia.
Kim HT, Lee SH, Yoo CI, Kang JH, Suh JT
J Bone Joint Surg Br 2003 Jul;85(5):683-90. PMID: 12892191

Diagnosis

Hypothesis: Symbrachydactyly.
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
Hypothesis: Central digit hypoplasia.
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
Multiple synostoses syndrome: Clinical report and retrospective analysis.
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
Cryptophthalmos--syndactyly syndrome.
Sinha S, Chaudhary SN
J Indian Med Assoc 2006 Aug;104(8):474-5. PMID: 17240806
Brachymorphism-onychodysplasia-dysphalangism syndrome.
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

Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.
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
Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies.
Ulusoy H
Rheumatol Int 2012 May;32(5):1379-82. Epub 2010 Mar 27 doi: 10.1007/s00296-010-1426-1. PMID: 20349070
Olmsted syndrome.
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
Sarcoidosis presenting as nail dystrophy.
Cohen PD, Lester RS
J Cutan Med Surg 1999 Oct;3(6):302-5. doi: 10.1177/120347549900300605. PMID: 10575159
Deformities of the smaller toes and surgical treatment.
Turan I
J Foot Surg 1990 Mar-Apr;29(2):176-8. PMID: 2338477

Prognosis

Previously unreported X-ray findings associated with distal toe pain in children.
Taniwaki H, Shintani K, Aono M
J Pediatr Orthop B 2024 Jan 1;33(1):53-57. Epub 2023 Feb 8 doi: 10.1097/BPB.0000000000001064. PMID: 36756944
Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.
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
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE
Eur J Hum Genet 2015 Dec;23(12):1640-5. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.38. PMID: 25758993Free PMC Article
The spectrum of preaxial polydactyly of the foot.
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Polydactyly of the foot. Literature review and case presentations.
Galois L, Mainard D, Delagoutte JP
Acta Orthop Belg 2002 Oct;68(4):376-80. PMID: 12415940

Clinical prediction guides

Clinico-radiological Correlation of Bone Changes in Leprosy Patients Presenting with Disabilities/Deformities.
Mohammad W, Malhotra SK, Garg PK
Indian J Lepr 2016 Apr;88(2):83-95. PMID: 29757540
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE
Eur J Hum Genet 2015 Dec;23(12):1640-5. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.38. PMID: 25758993Free PMC Article
Biphalangeal/triphalangeal fifth toe and impact in the pathology of the fifth ray.
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
The spectrum of preaxial polydactyly of the foot.
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.
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

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