U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal metatarsal morphology

MedGen UID:
871260
Concept ID:
C4025745
Anatomical Abnormality
Synonym: Abnormality of the metatarsal bones
 
HPO: HP:0001832

Definition

Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). [from HPO]

Conditions with this feature

Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.

Professional guidelines

PubMed

Grady JF, Schumann J, Cormier C, LaViolette K, Chinn A
Clin Podiatr Med Surg 2021 Jul;38(3):391-410. doi: 10.1016/j.cpm.2021.02.004. PMID: 34053651
Ray J, Andrews NA, Dib A, Harrelson WM, Khurana A, Singh MS, Shah A
Postgrad Med 2021 Apr;133(3):320-329. Epub 2021 Jan 18 doi: 10.1080/00325481.2021.1873581. PMID: 33406375
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030

Recent clinical studies

Etiology

Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
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
Federer AE, Tainter DM, Adams SB, Schweitzer KM Jr
Foot Ankle Clin 2018 Mar;23(1):9-20. Epub 2017 Nov 11 doi: 10.1016/j.fcl.2017.09.003. PMID: 29362036
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Mills JA, Menelaus MB
J Bone Joint Surg Br 1989 May;71(3):437-40. doi: 10.1302/0301-620X.71B3.2722937. PMID: 2722937

Diagnosis

Grady JF, Schumann J, Cormier C, LaViolette K, Chinn A
Clin Podiatr Med Surg 2021 Jul;38(3):391-410. doi: 10.1016/j.cpm.2021.02.004. PMID: 34053651
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Charen DA, Markowitz JS, Cheung ZB, Matijakovich DJ, Chan JJ, Vulcano E
Orthopedics 2019 Jan 1;42(1):e138-e143. Epub 2018 Dec 13 doi: 10.3928/01477447-20181206-06. PMID: 30540873
Toullec E
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S11-7. Epub 2015 Jan 13 doi: 10.1016/j.otsr.2014.07.030. PMID: 25595429
Cerrato RA
Foot Ankle Clin 2011 Dec;16(4):647-58. Epub 2011 Oct 15 doi: 10.1016/j.fcl.2011.08.008. PMID: 22118235

Therapy

Casula I, Guero S
J Pediatr Orthop 2021 Jan;41(1):56-60. doi: 10.1097/BPO.0000000000001662. PMID: 32804867
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
Lamm BM, Gourdine-Shaw MC
Clin Podiatr Med Surg 2010 Oct;27(4):561-82. Epub 2010 Jul 22 doi: 10.1016/j.cpm.2010.06.006. PMID: 20934105
Schimizzi A, Brage M
Foot Ankle Clin 2004 Sep;9(3):555-70, ix. doi: 10.1016/j.fcl.2004.05.002. PMID: 15324790
Mann RA
Instr Course Lect 1984;33:287-301. PMID: 6546112

Prognosis

Wong-Chung J, McKenna R, Tucker A, Gibson D, Datta P
Foot Ankle Surg 2021 Jul;27(5):501-509. Epub 2020 Jun 18 doi: 10.1016/j.fas.2020.06.009. PMID: 32600969
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Giesberts RB, Hekman EEG, Maathuis PGM, Verkerke GJ
J Mech Behav Biomed Mater 2017 Feb;66:45-49. Epub 2016 Nov 2 doi: 10.1016/j.jmbbm.2016.10.021. PMID: 27838589
Schade VL
Foot Ankle Spec 2015 Dec;8(6):498-519. Epub 2015 May 19 doi: 10.1177/1938640015585966. PMID: 25990579
Mills JA, Menelaus MB
J Bone Joint Surg Br 1989 May;71(3):437-40. doi: 10.1302/0301-620X.71B3.2722937. PMID: 2722937

Clinical prediction guides

Hoggett L, Nanavati N, Cowden J, Chadwick C, Blundell C, Davies H, Davies MB
Foot (Edinb) 2022 May;51:101901. Epub 2021 Dec 24 doi: 10.1016/j.foot.2021.101901. PMID: 35259580
Grady JF, Schumann J, Cormier C, LaViolette K, Chinn A
Clin Podiatr Med Surg 2021 Jul;38(3):391-410. doi: 10.1016/j.cpm.2021.02.004. PMID: 34053651
Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J
Mol Genet Genomic Med 2019 Jun;7(6):e701. Epub 2019 May 6 doi: 10.1002/mgg3.701. PMID: 31060108Free PMC Article
Kilinc BE, Oc Y, Erturer RE
Acta Chir Orthop Traumatol Cech 2018;85(5):325-330. PMID: 30383528
Marshall N, Ward E, Williams CM
J Foot Ankle Res 2018;11:25. Epub 2018 Jun 1 doi: 10.1186/s13047-018-0268-z. PMID: 29881466Free PMC Article

Recent systematic reviews

Alhadhoud MA, Alsiri NF, Daniels TR, Glazebrook MA
Foot Ankle Surg 2021 Aug;27(6):606-614. Epub 2020 Aug 27 doi: 10.1016/j.fas.2020.08.005. PMID: 32917526
Marshall N, Ward E, Williams CM
J Foot Ankle Res 2018;11:25. Epub 2018 Jun 1 doi: 10.1186/s13047-018-0268-z. PMID: 29881466Free PMC Article
Jones MD, Pinegar DM, Rincker SA
J Foot Ankle Surg 2015 Sep-Oct;54(5):927-31. Epub 2015 May 19 doi: 10.1053/j.jfas.2015.02.013. PMID: 25998479
Schade VL
Foot Ankle Spec 2015 Dec;8(6):498-519. Epub 2015 May 19 doi: 10.1177/1938640015585966. PMID: 25990579
Zammit GV, Menz HB, Munteanu SE
J Orthop Sports Phys Ther 2009 Oct;39(10):733-42. doi: 10.2519/jospt.2009.3003. PMID: 19801816

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...