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Absent fifth metatarsal

MedGen UID:
357383
Concept ID:
C1867932
Finding
Synonym: Absent 5th metatarsals
 
HPO: HP:0008079

Definition

A developmental abnormality characterized by the absence of the fifth metatarsal bone. [from HPO]

Conditions with this feature

Postaxial tetramelic oligodactyly
MedGen UID:
357380
Concept ID:
C1867924
Congenital Abnormality
A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.

Recent clinical studies

Etiology

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
Niki H, Hirano T, Okada H, Beppu M
J Bone Joint Surg Br 2010 Mar;92(3):380-6. doi: 10.1302/0301-620X.92B3.23186. PMID: 20190309
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
Hootnick DR, Packard DS Jr, Levinsohn EM, Lebowitz MR, Lubicky JP
Teratology 1984 Apr;29(2):155-64. doi: 10.1002/tera.1420290202. PMID: 6740502

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
Reyes BA, Birch JG, Hootnick DR, Cherkashin AM, Samchukov ML
J Pediatr Orthop 2017 Jul/Aug;37(5):332-337. doi: 10.1097/BPO.0000000000000646. PMID: 26356313
Kamei N, Yamane K, Nakanishi S, Yamashita Y, Tamura T, Ohshita K, Watanabe H, Fujikawa R, Okubo M, Kohno N
J Diabetes Complications 2005 Jan-Feb;19(1):47-53. doi: 10.1016/j.jdiacomp.2003.12.006. PMID: 15642490
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
Rodriquez AA, Kanis L, Rodriquez AA, Lane D
Arch Phys Med Rehabil 1987 Jun;68(6):366-8. PMID: 3036037

Therapy

Kamei N, Yamane K, Nakanishi S, Yamashita Y, Tamura T, Ohshita K, Watanabe H, Fujikawa R, Okubo M, Kohno N
J Diabetes Complications 2005 Jan-Feb;19(1):47-53. doi: 10.1016/j.jdiacomp.2003.12.006. PMID: 15642490

Prognosis

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
Reyes BA, Birch JG, Hootnick DR, Cherkashin AM, Samchukov ML
J Pediatr Orthop 2017 Jul/Aug;37(5):332-337. doi: 10.1097/BPO.0000000000000646. PMID: 26356313
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894
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
Eliot DJ, Jungers WL
J Hum Evol 2000 Feb;38(2):333-42. doi: 10.1006/jhev.1999.0337. PMID: 10656782

Clinical prediction guides

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
Niki H, Hirano T, Akiyama Y, Mitsui H, Fujiya H
Mod Rheumatol 2015 Sep;25(5):683-8. Epub 2015 Jun 5 doi: 10.3109/14397595.2015.1008672. PMID: 25608049
Niki H, Hirano T, Okada H, Beppu M
J Bone Joint Surg Br 2010 Mar;92(3):380-6. doi: 10.1302/0301-620X.92B3.23186. PMID: 20190309
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
Eliot DJ, Jungers WL
J Hum Evol 2000 Feb;38(2):333-42. doi: 10.1006/jhev.1999.0337. PMID: 10656782

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