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Broad metatarsal

MedGen UID:
330797
Concept ID:
C1842231
Finding
Synonym: Broad metatarsals
 
HPO: HP:0001783

Definition

Increased side-to-side width of a metatarsal bone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBroad metatarsal

Conditions with this feature

Osteoglophonic dysplasia
MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005).
Jackson-Weiss syndrome
MedGen UID:
208653
Concept ID:
C0795998
Disease or Syndrome
Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001).
Eiken syndrome
MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality
Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.
Multicentric osteolysis nodulosis arthropathy spectrum
MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).
Acromesomelic dysplasia 1, Maroteaux type
MedGen UID:
355199
Concept ID:
C1864356
Disease or Syndrome
The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). Genetic Heterogeneity of Acromesomelic Dysplasia Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21. An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910).
Weill-Marchesani syndrome 2, dominant
MedGen UID:
358388
Concept ID:
C1869115
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.
Smith-McCort dysplasia 2
MedGen UID:
811489
Concept ID:
C3714896
Disease or Syndrome
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326).
Weill-Marchesani syndrome 1
MedGen UID:
1637058
Concept ID:
C4552002
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.

Professional guidelines

PubMed

Colò G, Rava A, Samaila EM, Palazzolo A, Talesa G, Schiraldi M, Magnan B, Ferracini R, Felli L
Acta Biomed 2020 May 30;91(4-S):60-68. doi: 10.23750/abm.v91i4-S.9713. PMID: 32555077Free PMC Article
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

Recent clinical studies

Etiology

Colò G, Fusini F, Samaila EM, Rava A, Felli L, Alessio-Mazzola M, Magnan B
Acta Biomed 2020 Dec 30;91(14-S):e2020016. doi: 10.23750/abm.v91i14-S.10969. PMID: 33559617Free PMC Article
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
Kıyak G, Esemenli T
J Foot Ankle Surg 2019 Sep;58(5):880-885. Epub 2019 Jul 23 doi: 10.1053/j.jfas.2018.12.031. PMID: 31345758
Samuels JX, Meachen JA, Sakai SA
J Morphol 2013 Feb;274(2):121-46. Epub 2012 Sep 13 doi: 10.1002/jmor.20077. PMID: 22972188
Lim KB, Tey IK, Lokino ES, Yap RT, Tawng DK
J Pediatr Orthop 2010 Jul-Aug;30(5):414-9. doi: 10.1097/BPO.0b013e3181df1546. PMID: 20574255

Diagnosis

Hantouly AT, Attia AK, Hasan K, D'Hooghe P
Foot Ankle Clin 2023 Dec;28(4):729-741. Epub 2023 Jun 26 doi: 10.1016/j.fcl.2023.05.010. PMID: 37863531
Colò G, Rava A, Samaila EM, Palazzolo A, Talesa G, Schiraldi M, Magnan B, Ferracini R, Felli L
Acta Biomed 2020 May 30;91(4-S):60-68. doi: 10.23750/abm.v91i4-S.9713. PMID: 32555077Free PMC Article
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
McBrien B
Emerg Nurse 2018 Dec 21;27(1):35-41. Epub 2018 Oct 25 doi: 10.7748/en.2018.e1841. PMID: 30375205
Welck MJ, Zinchenko R, Rudge B
Injury 2015 Apr;46(4):536-41. Epub 2014 Dec 10 doi: 10.1016/j.injury.2014.11.026. PMID: 25543185

Therapy

Kıyak G, Esemenli T
J Foot Ankle Surg 2019 Sep;58(5):880-885. Epub 2019 Jul 23 doi: 10.1053/j.jfas.2018.12.031. PMID: 31345758
Atkinson HD, Khan S, Lashgari Y, Ziegler A
BMC Musculoskelet Disord 2019 Jul 19;20(1):334. doi: 10.1186/s12891-019-2717-7. PMID: 31319832Free PMC Article
Lim KB, Tey IK, Lokino ES, Yap RT, Tawng DK
J Pediatr Orthop 2010 Jul-Aug;30(5):414-9. doi: 10.1097/BPO.0b013e3181df1546. PMID: 20574255
Petroutsas J, Trnka HJ
Oper Orthop Traumatol 2005 Feb;17(1):102-17. doi: 10.1007/s00064-005-1124-4. PMID: 16007381
Barouk LS
Foot Ankle Clin 2000 Sep;5(3):525-58. PMID: 11232396

Prognosis

Colò G, Fusini F, Samaila EM, Rava A, Felli L, Alessio-Mazzola M, Magnan B
Acta Biomed 2020 Dec 30;91(14-S):e2020016. doi: 10.23750/abm.v91i14-S.10969. PMID: 33559617Free PMC Article
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
Kıyak G, Esemenli T
J Foot Ankle Surg 2019 Sep;58(5):880-885. Epub 2019 Jul 23 doi: 10.1053/j.jfas.2018.12.031. PMID: 31345758
Miller T, Kaeding CC, Flanigan D
Phys Sportsmed 2011 Feb;39(1):93-100. doi: 10.3810/psm.2011.02.1866. PMID: 21378491
Lim KB, Tey IK, Lokino ES, Yap RT, Tawng DK
J Pediatr Orthop 2010 Jul-Aug;30(5):414-9. doi: 10.1097/BPO.0b013e3181df1546. PMID: 20574255

Clinical prediction guides

Pablos A, Arsuaga JL
Anat Rec (Hoboken) 2024 Jul;307(7):2665-2707. Epub 2024 Feb 21 doi: 10.1002/ar.25412. PMID: 38380556
Kıyak G, Esemenli T
J Foot Ankle Surg 2019 Sep;58(5):880-885. Epub 2019 Jul 23 doi: 10.1053/j.jfas.2018.12.031. PMID: 31345758
Burger EB, Hovius SE, Burger BJ, van Nieuwenhoven CA
J Bone Joint Surg Am 2016 Aug 3;98(15):1298-306. doi: 10.2106/JBJS.15.01416. PMID: 27489321
Metzl J, Olson K, Davis WH, Jones C, Cohen B, Anderson R
Foot Ankle Int 2013 Jul;34(7):956-61. doi: 10.1177/1071100713483100. PMID: 23821011
Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD
J Craniofac Surg 1998 Jan;9(1):83-7. doi: 10.1097/00001665-199801000-00018. PMID: 9558574

Recent systematic reviews

Tenten-Diepenmaat M, Dekker J, Heymans MW, Roorda LD, Vliet Vlieland TPM, van der Leeden M
J Foot Ankle Res 2019;12:32. Epub 2019 Jun 13 doi: 10.1186/s13047-019-0338-x. PMID: 31210785Free PMC Article
Miller T, Kaeding CC, Flanigan D
Phys Sportsmed 2011 Feb;39(1):93-100. doi: 10.3810/psm.2011.02.1866. PMID: 21378491

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