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Abnormal third toe morphology

MedGen UID:
869480
•Concept ID:
C4023907
•
Anatomical Abnormality
Synonyms: Abnormal 3rd toe morphology; Abnormality of the 3rd toe
 
HPO: HP:0010320

Definition

An anomaly of the third toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal third toe morphology

Professional guidelines

PubMed

Treatment of Freiberg Disease.
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F
Am J Med Genet A 2014 Oct;164A(10):2504-9. Epub 2014 Jun 26 doi: 10.1002/ajmg.a.36658. PMID: 24975584

Recent clinical studies

Etiology

Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP
Am J Med Genet A 2024 Apr;194(4):e63480. Epub 2023 Nov 19 doi: 10.1002/ajmg.a.63480. PMID: 37982325
Treatment of Freiberg Disease.
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Postural & striatal deformities in Parkinson`s disease: Are these rare?
Pandey S, Garg H
Indian J Med Res 2016 Jan;143(1):11-7. doi: 10.4103/0971-5916.178577. PMID: 26997007Free PMC Article
The sesamoids of the feet in humans: a systematic review and meta-analysis.
Yammine K
Anat Sci Int 2015 Jun;90(3):144-60. Epub 2014 May 7 doi: 10.1007/s12565-014-0239-9. PMID: 24801385
Nevus comedonicus syndrome: a new pediatric case.
Patrizi A, Neri I, Fiorentini C, Marzaduri S
Pediatr Dermatol 1998 Jul-Aug;15(4):304-6. doi: 10.1046/j.1525-1470.1998.1998015304.x. PMID: 9720699

Diagnosis

Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP
Am J Med Genet A 2024 Apr;194(4):e63480. Epub 2023 Nov 19 doi: 10.1002/ajmg.a.63480. PMID: 37982325
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Mardy AH, Hodoglugil U, Yip T, Slavotinek AM
Clin Genet 2021 Jul;100(1):93-99. Epub 2021 Mar 27 doi: 10.1111/cge.13962. PMID: 33748949
Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly.
Chen X, Yuan L, Xu H, Hu P, Yang Y, Guo Y, Guo Z, Deng H
Curr Mol Med 2019;19(3):228-235. doi: 10.2174/1566524019666190308110122. PMID: 30848202
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H, Tan T, Yuan L
Expert Rev Mol Med 2015 Oct 30;17:e18. doi: 10.1017/erm.2015.18. PMID: 26515020
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews.
Jenwitheesuk K, Surakunprapha P, Chowchuen B, Jetsrisuparb C
J Med Assoc Thai 2010 Oct;93 Suppl 4:S78-82. PMID: 21299053

Therapy

Outcomes of Polyvinyl Alcohol Hydrogel Implant of the Lesser Metatarsals.
Chrea B, Day J, Eble SK, Elliott A, O'Malley MJ, Demetracopoulos C, Deland JT, Drakos MC
Foot Ankle Int 2020 Sep;41(9):1092-1098. Epub 2020 Jul 8 doi: 10.1177/1071100720935034. PMID: 32639166
Treatment of Rigid Hammer-Toe Deformity: Permanent Versus Removable Implant Selection.
Doty JF, Fogleman JA
Foot Ankle Clin 2018 Mar;23(1):91-101. doi: 10.1016/j.fcl.2017.09.007. PMID: 29362037
Treatment of Freiberg Disease.
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Correction of lateral tibial plateau depression and valgus malunion of the proximal tibia.
Marti RK, Kerkhoffs GM, Rademakers MV
Oper Orthop Traumatol 2007 Mar;19(1):101-13. doi: 10.1007/s00064-007-1197-3. PMID: 17345029
Plasmodium falciparum malaria mimicking autoimmune hemolytic anemia during pregnancy.
Drouin J, Rock G, Jolly EE
Can Med Assoc J 1985 Feb 1;132(3):265-7. PMID: 3881157Free PMC Article

Prognosis

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Mardy AH, Hodoglugil U, Yip T, Slavotinek AM
Clin Genet 2021 Jul;100(1):93-99. Epub 2021 Mar 27 doi: 10.1111/cge.13962. PMID: 33748949
Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B
Genomics 2020 Jul;112(4):2729-2733. Epub 2020 Mar 5 doi: 10.1016/j.ygeno.2020.03.006. PMID: 32147526
Limb skeletal malformations - what the HOX is going on?
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042
Fibroma of a tendon-sheath presenting as toe deformity.
Yamamoto T, Marui T, Mizuno K
Foot Ankle Int 2001 Jan;22(1):59-61. doi: 10.1177/107110070102200110. PMID: 11206825
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S
Nat Genet 1994 Nov;8(3):269-74. doi: 10.1038/ng1194-269. PMID: 7874169

Clinical prediction guides

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Mardy AH, Hodoglugil U, Yip T, Slavotinek AM
Clin Genet 2021 Jul;100(1):93-99. Epub 2021 Mar 27 doi: 10.1111/cge.13962. PMID: 33748949
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
Dissanayake R, Senanayake MP, Fernando J, Robertson SP, Dissanayake VHW, Sirisena ND
Am J Med Genet A 2021 Apr;185(4):1317-1320. Epub 2020 Dec 29 doi: 10.1002/ajmg.a.62058. PMID: 33372358
Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B
Genomics 2020 Jul;112(4):2729-2733. Epub 2020 Mar 5 doi: 10.1016/j.ygeno.2020.03.006. PMID: 32147526
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.
Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH
Am J Med Genet A 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. PMID: 15779011

Recent systematic reviews

The sesamoids of the feet in humans: a systematic review and meta-analysis.
Yammine K
Anat Sci Int 2015 Jun;90(3):144-60. Epub 2014 May 7 doi: 10.1007/s12565-014-0239-9. PMID: 24801385

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