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Metacarpophalangeal synostosis

MedGen UID:
870663
•Concept ID:
C4025117
•
Anatomical Abnormality
Synonym: Metacarpophalangeal synostoses
 
HPO: HP:0005880

Definition

Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetacarpophalangeal synostosis

Conditions with this feature

Calcaneonavicular coalition
MedGen UID:
360296
•Concept ID:
C1876184
•
Anatomical Abnormality
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
See: Condition Record
Proximal symphalangism 1A
MedGen UID:
811492
•Concept ID:
C3714899
•
Disease or Syndrome
Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146).
See: Condition Record
Calcaneonavicular coalition
Proximal symphalangism 1A

Professional guidelines

PubMed

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM, Harrison RE, Graham JM Jr
Am J Med Genet A 2015 Sep;167A(9):2122-31. Epub 2015 Apr 29 doi: 10.1002/ajmg.a.37131. PMID: 25921057Free PMC Article
Long-term outcomes of web creep, scar quality, and function after simple syndactyly surgical treatment.
Lumenta DB, Kitzinger HB, Beck H, Frey M
J Hand Surg Am 2010 Aug;35(8):1323-9. Epub 2010 Jul 16 doi: 10.1016/j.jhsa.2010.04.033. PMID: 20638200

Recent clinical studies

Etiology

Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome.
Taghinia AH, Yorlets RR, Doyle M, Labow BI, Upton J
Plast Reconstr Surg 2019 Apr;143(4):1136-1145. doi: 10.1097/PRS.0000000000005479. PMID: 30676503
Five- and 10-Year Follow-Up of Nonvascularized Toe Phalanx Transfers.
Kawabata H, Tamura D
J Hand Surg Am 2018 May;43(5):485.e1-485.e5. Epub 2017 Dec 6 doi: 10.1016/j.jhsa.2017.10.034. PMID: 29223628
An assessment of 2 objective measurements of web space position.
Tonkin MA, Chew EM, Ledgard JP, Al-Sultan AA, Smith BJ, Lawson RD
J Hand Surg Am 2015 Mar;40(3):456-61. Epub 2015 Jan 21 doi: 10.1016/j.jhsa.2014.11.017. PMID: 25617216
Long-term outcomes of web creep, scar quality, and function after simple syndactyly surgical treatment.
Lumenta DB, Kitzinger HB, Beck H, Frey M
J Hand Surg Am 2010 Aug;35(8):1323-9. Epub 2010 Jul 16 doi: 10.1016/j.jhsa.2010.04.033. PMID: 20638200
Two-stage reconstruction of apert acrosyndactyly.
Van Heest AE, House JH, Reckling WC
J Hand Surg Am 1997 Mar;22(2):315-22. doi: 10.1016/S0363-5023(97)80170-0. PMID: 9195433

Diagnosis

Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome.
Zhao J, Hou Y, Fang F, Ding C, Yang X, Li J, Cui D, Cao Z, Zhang H
Eur J Med Genet 2021 Mar;64(3):104155. Epub 2021 Jan 30 doi: 10.1016/j.ejmg.2021.104155. PMID: 33529703
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Unal E, Demiral M, Yıldırım R, Taş FF, Ceylaner S, Özbek MN
Hormones (Athens) 2021 Jun;20(2):293-298. Epub 2020 Oct 29 doi: 10.1007/s42000-020-00249-z. PMID: 33123976
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Bai Y, Li J, Wang X
J Ovarian Res 2017 Mar 14;10(1):16. doi: 10.1186/s13048-017-0312-9. PMID: 28288674Free PMC Article
An assessment of 2 objective measurements of web space position.
Tonkin MA, Chew EM, Ledgard JP, Al-Sultan AA, Smith BJ, Lawson RD
J Hand Surg Am 2015 Mar;40(3):456-61. Epub 2015 Jan 21 doi: 10.1016/j.jhsa.2014.11.017. PMID: 25617216
Congenital thumb deformities.
Wood VE
Clin Orthop Relat Res 1985 May;(195):7-25. PMID: 2983921

Therapy

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.
Lopez-Rangel E, Van Allen MI
Birth Defects Res A Clin Mol Teratol 2005 Nov;73(11):919-23. doi: 10.1002/bdra.20189. PMID: 16265639

Prognosis

Five- and 10-Year Follow-Up of Nonvascularized Toe Phalanx Transfers.
Kawabata H, Tamura D
J Hand Surg Am 2018 May;43(5):485.e1-485.e5. Epub 2017 Dec 6 doi: 10.1016/j.jhsa.2017.10.034. PMID: 29223628
Case Report: 35-Year Follow-up for Nonvascularized Toe Phalangeal Transfer for Multiple Digit Symbrachydactyly.
Naran S, Imbriglia JE
Hand (N Y) 2016 Dec;11(4):NP38-NP40. Epub 2016 Jul 28 doi: 10.1177/1558944716658748. PMID: 28149225Free PMC Article
Metacarpal synostosis: a simple classification and a new treatment technique.
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
Two-stage reconstruction of apert acrosyndactyly.
Van Heest AE, House JH, Reckling WC
J Hand Surg Am 1997 Mar;22(2):315-22. doi: 10.1016/S0363-5023(97)80170-0. PMID: 9195433
Antley-Bixler syndrome: description of two patients.
Bianchi E, Cordini S, Fiori P, Torcetta F, Beluffi G
Skeletal Radiol 1991;20(5):339-43. doi: 10.1007/BF01267660. PMID: 1896874

Clinical prediction guides

Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome.
Taghinia AH, Yorlets RR, Doyle M, Labow BI, Upton J
Plast Reconstr Surg 2019 Apr;143(4):1136-1145. doi: 10.1097/PRS.0000000000005479. PMID: 30676503
An assessment of 2 objective measurements of web space position.
Tonkin MA, Chew EM, Ledgard JP, Al-Sultan AA, Smith BJ, Lawson RD
J Hand Surg Am 2015 Mar;40(3):456-61. Epub 2015 Jan 21 doi: 10.1016/j.jhsa.2014.11.017. PMID: 25617216
Long-term outcomes of web creep, scar quality, and function after simple syndactyly surgical treatment.
Lumenta DB, Kitzinger HB, Beck H, Frey M
J Hand Surg Am 2010 Aug;35(8):1323-9. Epub 2010 Jul 16 doi: 10.1016/j.jhsa.2010.04.033. PMID: 20638200
Metacarpal synostosis: a simple classification and a new treatment technique.
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
Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes.
Murdoch-Kinch CA, Ward RE
Am J Med Genet 1997 Nov 28;73(1):61-6. PMID: 9375924

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