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Metacarpal synostosis

MedGen UID:
867040
Concept ID:
C4021398
Anatomical Abnormality
Synonyms: Fused long bones of hand; Synostosis involving metacarpal bones; Synostosis involving the metacarpal bones
 
HPO: HP:0009701

Definition

Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). [from HPO]

Term Hierarchy

Conditions with this feature

Mesomelia-synostoses syndrome
MedGen UID:
324959
Concept ID:
C1838162
Disease or Syndrome
The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009). Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).
Synpolydactyly type 2
MedGen UID:
331290
Concept ID:
C1842422
Disease or Syndrome
Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.
Cenani-Lenz syndactyly syndrome
MedGen UID:
395226
Concept ID:
C1859309
Disease or Syndrome
Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal recessive disorder characterized mainly by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients. Kidney anomalies, including renal agenesis and hypoplasia, occur in over half of patients (summary by Li et al., 2010).
Multiple synostoses syndrome 3
MedGen UID:
414116
Concept ID:
C2751826
Disease or Syndrome
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
Polydactyly, postaxial, type A5
MedGen UID:
763575
Concept ID:
C3550661
Disease or Syndrome

Professional guidelines

PubMed

Liu B, Zhao JH, Tian W, Chen SL, Li C, Zhu J
J Hand Surg Am 2014 Jan;39(1):83-90. Epub 2013 Dec 4 doi: 10.1016/j.jhsa.2013.10.012. PMID: 24315489
Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030

Recent clinical studies

Etiology

Liu B, Zhao JH, Tian W, Chen SL, Li C, Zhu J
J Hand Surg Am 2014 Jan;39(1):83-90. Epub 2013 Dec 4 doi: 10.1016/j.jhsa.2013.10.012. PMID: 24315489
Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030
Havenhill TG, Manske PR, Patel A, Goldfarb CA
J Hand Surg Am 2005 Nov;30(6):1288-93. doi: 10.1016/j.jhsa.2005.07.006. PMID: 16344190
Matsuno T, Ishida O, Sunagawa T, Ichikawa M, Ikuta Y, Ochi M
J Hand Surg Am 2004 Jul;29(4):712-9. doi: 10.1016/j.jhsa.2004.02.012. PMID: 15249099
Horii E, Miura T, Nakamura R, Nakao E, Kato H
J Hand Surg Br 1998 Oct;23(5):691-4. doi: 10.1016/s0266-7681(98)80030-2. PMID: 9821622

Diagnosis

Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030
Havenhill TG, Manske PR, Patel A, Goldfarb CA
J Hand Surg Am 2005 Nov;30(6):1288-93. doi: 10.1016/j.jhsa.2005.07.006. PMID: 16344190
Jianmongkol S, Thammaroj T, Vipulakorn K
Hand Surg 2005 Jul;10(1):131-4. doi: 10.1142/S0218810405002577. PMID: 16106516
Matsuno T, Ishida O, Sunagawa T, Ichikawa M, Ikuta Y, Ochi M
J Hand Surg Am 2004 Jul;29(4):712-9. doi: 10.1016/j.jhsa.2004.02.012. PMID: 15249099

Therapy

Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S
Birth Defects Res A Clin Mol Teratol 2014 Apr;100(4):314-8. Epub 2014 Apr 7 doi: 10.1002/bdra.23239. PMID: 24706454
Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030

Prognosis

Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030
Foucher G, Loréa P, Hovius S, Pivato G, Medina J
J Hand Surg Br 2006 Apr;31(2):156-61. Epub 2006 Jan 25 doi: 10.1016/j.jhsb.2005.12.003. PMID: 16442191
Foucher G, Navarro R, Medina J, Khouri RK
Plast Reconstr Surg 2001 Oct;108(5):1225-31; discussion 1232-4. doi: 10.1097/00006534-200110000-00019. PMID: 11604623
Horii E, Miura T, Nakamura R, Nakao E, Kato H
J Hand Surg Br 1998 Oct;23(5):691-4. doi: 10.1016/s0266-7681(98)80030-2. PMID: 9821622
Ueba Y, Seto Y
Handchir Mikrochir Plast Chir 1997 Nov;29(6):297-302. PMID: 9483426

Clinical prediction guides

Foucher G, Navarro R, Medina J, Khouri RK
Plast Reconstr Surg 2001 Oct;108(5):1225-31; discussion 1232-4. doi: 10.1097/00006534-200110000-00019. PMID: 11604623

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