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Symbrachydactyly of hands and feet

MedGen UID:
419146
Concept ID:
C2931719
Disease or Syndrome
Synonyms: Frints de Smet Fabry Fryns syndrome; Symbrachydactyly of the hand and foot
 
Monarch Initiative: MONDO:0015516
Orphanet: ORPHA1570

Definition

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymbrachydactyly of hands and feet

Professional guidelines

PubMed

Woodside JC, Light TR
J Hand Surg Am 2016 Jan;41(1):135-43; quiz 143. Epub 2015 Aug 6 doi: 10.1016/j.jhsa.2015.06.114. PMID: 26254946

Recent clinical studies

Etiology

Meyers A, Bassiri Gharb B, Rampazzo A
Plast Reconstr Surg 2023 Jun 1;151(6):1256-1273. Epub 2022 Dec 26 doi: 10.1097/PRS.0000000000010116. PMID: 36728793
Richardson PW, Johnstone BR, Coombs CJ
Hand Surg 2004 Jul;9(1):11-8. doi: 10.1142/s0218810404001929. PMID: 15368620
Miyawaki T, Masuzawa G, Hirakawa M, Kurihara K
J Bone Joint Surg Am 2002 Jun;84(6):986-91. doi: 10.2106/00004623-200206000-00013. PMID: 12063333
Foucher G, Medina J, Navarro R, Nagel D
J Reconstr Microsurg 2001 Jan;17(1):1-7. doi: 10.1055/s-2001-12682. PMID: 11316279
De Smet L, Fabry G
J Pediatr Orthop B 1998 Apr;7(2):158-61. doi: 10.1097/01202412-199804000-00014. PMID: 9597595

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Mills JK, Butler L, Mills EM, Oishi SN
JAAPA 2019 Apr;32(4):32-37. doi: 10.1097/01.JAA.0000553383.75260.0c. PMID: 30913147
Woodside JC, Light TR
J Hand Surg Am 2016 Jan;41(1):135-43; quiz 143. Epub 2015 Aug 6 doi: 10.1016/j.jhsa.2015.06.114. PMID: 26254946
Balzani A, Pagnotta A, Montesi G, Gravante G, Nicoli F, Cervelli V
Eur Rev Med Pharmacol Sci 2012 Jul;16(7):983-5. PMID: 22953651
Uchida T, Kojima T, Hirakawa M, Uchida M
Handchir Mikrochir Plast Chir 1995 Jan;27(1):51-4. PMID: 7705729

Prognosis

Garagnani L, Gibson M, Smith PJ, Smith GD
J Hand Surg Am 2012 Apr;37(4):764-74. Epub 2012 Feb 3 doi: 10.1016/j.jhsa.2011.12.010. PMID: 22305432
Richardson PW, Johnstone BR, Coombs CJ
Hand Surg 2004 Jul;9(1):11-8. doi: 10.1142/s0218810404001929. PMID: 15368620
Cavallo AV, Smith PJ, Morley S, Morsi AW
J Hand Surg Br 2003 Dec;28(6):520-7. doi: 10.1016/s0266-7681(03)00084-6. PMID: 14599822
Miyawaki T, Masuzawa G, Hirakawa M, Kurihara K
J Bone Joint Surg Am 2002 Jun;84(6):986-91. doi: 10.2106/00004623-200206000-00013. PMID: 12063333
Miura T, Nakamura R, Horii E
J Hand Surg Br 1994 Jun;19(3):350-4. doi: 10.1016/0266-7681(94)90088-4. PMID: 8077827

Clinical prediction guides

Sabapathy SR, Mohan M, Shanmugakrishnan RR
J Hand Surg Am 2021 Dec;46(12):1124.e1-1124.e9. Epub 2021 May 7 doi: 10.1016/j.jhsa.2021.03.012. PMID: 33966936
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
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981

Recent systematic reviews

Meyers A, Bassiri Gharb B, Rampazzo A
Plast Reconstr Surg 2023 Jun 1;151(6):1256-1273. Epub 2022 Dec 26 doi: 10.1097/PRS.0000000000010116. PMID: 36728793

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