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Absent first metatarsal

MedGen UID:
350160
Concept ID:
C1863382
Finding
Synonyms: Absent 1st long bone of foot; Absent 1st metatarsal; Aplasia of the 1st metatarsal
 
HPO: HP:0010104

Definition

A developmental defect characterized by the absence of the first metatarsal bone. [from HPO]

Conditions with this feature

Saethre-Chotzen syndrome
MedGen UID:
64221
Concept ID:
C0175699
Disease or Syndrome
Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.

Professional guidelines

PubMed

Harisboure A, Joveniaux P, Madi K, Dehoux E
Orthop Traumatol Surg Res 2009 May;95(3):202-9. Epub 2009 Apr 25 doi: 10.1016/j.otsr.2009.02.004. PMID: 19394916

Recent clinical studies

Etiology

Strony JT, Rascoe AS, Marcus RE
Clin Orthop Relat Res 2022 Oct 1;480(10):2002-2009. Epub 2022 May 18 doi: 10.1097/CORR.0000000000002248. PMID: 35583484Free PMC Article
Nguyen VT, Lam K, Le VD
Surg Radiol Anat 2021 Oct;43(10):1711-1719. Epub 2021 Jul 5 doi: 10.1007/s00276-021-02793-8. PMID: 34226966
Hootnick DR
J Am Podiatr Med Assoc 2020 May 1;110(3) doi: 10.7547/18-031. PMID: 32730600
Suda EY, Matias AB, Bus SA, Sacco ICN
Gait Posture 2019 Oct;74:194-199. Epub 2019 Sep 14 doi: 10.1016/j.gaitpost.2019.09.014. PMID: 31550557
Dayton P, Feilmeier M
J Foot Ankle Surg 2017 Sep-Oct;56(5):1041-1046. doi: 10.1053/j.jfas.2017.05.006. PMID: 28842090

Diagnosis

Naemi R, Chockalingam N, Lutale JK, Abbas ZG
BMJ Open Diabetes Res Care 2020 May;8(1) doi: 10.1136/bmjdrc-2019-001122. PMID: 32371531Free PMC Article
Menz HB, Fotoohabadi MR, Wee E, Spink MJ
BMC Musculoskelet Disord 2010 Sep 20;11:215. doi: 10.1186/1471-2474-11-215. PMID: 20854678Free PMC Article
Bevan WP, Tomlinson MP
Foot Ankle Int 2008 Jun;29(6):568-73. doi: 10.3113/FAI.2008.0568. PMID: 18549751
Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R
Am J Med Genet A 2004 Jan 1;124A(1):48-53. doi: 10.1002/ajmg.a.20440. PMID: 14679586
Schon LC, Easley ME, Cohen I, Lam PW, Badekas A, Anderson CD
Foot Ankle Int 2002 Jan;23(1):30-6. doi: 10.1177/107110070202300106. PMID: 11826874

Therapy

Menz HB, Fotoohabadi MR, Wee E, Spink MJ
BMC Musculoskelet Disord 2010 Sep 20;11:215. doi: 10.1186/1471-2474-11-215. PMID: 20854678Free PMC Article
Kanatli U, Ozturk AM, Ercan NG, Ozalay M, Daglar B, Yetkin H
Clin Anat 2006 Oct;19(7):634-9. doi: 10.1002/ca.20282. PMID: 16506237
Weinraub GM, Meberg R, Steinberg JS
J Foot Ankle Surg 2004 Jul-Aug;43(4):221-4. doi: 10.1053/j.jfas.2004.05.008. PMID: 15284810
Gu YD, Zhang GM, Chen DS, Cheng XM, Xu JG, Wang H
J Hand Surg Am 2000 Mar;25(2):277-81. doi: 10.1053/jhsu.2000.jh25a0277. PMID: 10722819
Leighton PC, Evans DG, Wallis SM
Br Med J 1976 Apr 17;1(6015):959. doi: 10.1136/bmj.1.6015.959-b. PMID: 1268504Free PMC Article

Prognosis

Dayton P, Feilmeier M
J Foot Ankle Surg 2017 Sep-Oct;56(5):1041-1046. doi: 10.1053/j.jfas.2017.05.006. PMID: 28842090
Harisboure A, Joveniaux P, Madi K, Dehoux E
Orthop Traumatol Surg Res 2009 May;95(3):202-9. Epub 2009 Apr 25 doi: 10.1016/j.otsr.2009.02.004. PMID: 19394916
Bevan WP, Tomlinson MP
Foot Ankle Int 2008 Jun;29(6):568-73. doi: 10.3113/FAI.2008.0568. PMID: 18549751
Coughlin MJ
J Bone Joint Surg Am 2000 Mar;82(3):322-41. PMID: 10724225
Gu YD, Zhang GM, Chen DS, Cheng XM, Xu JG, Wang H
J Hand Surg Am 2000 Mar;25(2):277-81. doi: 10.1053/jhsu.2000.jh25a0277. PMID: 10722819

Clinical prediction guides

Kaur K, Meyr AJ
J Foot Ankle Surg 2023 Sep-Oct;62(5):764-767. Epub 2023 Feb 1 doi: 10.1053/j.jfas.2023.01.009. PMID: 36872102
Hootnick DR
J Am Podiatr Med Assoc 2020 May 1;110(3) doi: 10.7547/18-031. PMID: 32730600
Yammine K
Anat Rec (Hoboken) 2018 Jun;301(6):1046-1060. Epub 2018 Jan 31 doi: 10.1002/ar.23774. PMID: 29314775
van Alphen NA, Laungani AT, Christner JA, Lachman N, Carlsen BT, Saint-Cyr M
J Reconstr Microsurg 2016 May;32(4):245-50. Epub 2015 Jul 10 doi: 10.1055/s-0035-1554936. PMID: 26165886
Leighton PC, Evans DG, Wallis SM
Br Med J 1976 Apr 17;1(6015):959. doi: 10.1136/bmj.1.6015.959-b. PMID: 1268504Free PMC Article

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