U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
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
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

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

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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...