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1-3 toe syndactyly

MedGen UID:
871286
Concept ID:
C4025774
Congenital Abnormality
Synonym: Webbed 1st-3rd toes
 
HPO: HP:0001459

Definition

Syndactyly with fusion of toes one to three. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV1-3 toe syndactyly

Conditions with this feature

Greig cephalopolysyndactyly syndrome
MedGen UID:
120531
Concept ID:
C0265306
Congenital Abnormality
Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.

Recent clinical studies

Etiology

Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Park JE, Lee T, Ha K, Ki CS
Orphanet J Rare Dis 2021 Apr 9;16(1):166. doi: 10.1186/s13023-021-01789-2. PMID: 33836803Free PMC Article
Nowaczyk MJ, Irons MB
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):250-62. Epub 2012 Oct 11 doi: 10.1002/ajmg.c.31343. PMID: 23059950
Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY
Clin Genet 2012 Aug;82(2):165-72. Epub 2011 Jul 18 doi: 10.1111/j.1399-0004.2011.01742.x. PMID: 21696385
Marsh DJ, Floyd D
J Plast Reconstr Aesthet Surg 2011 Apr;64(4):535-40. Epub 2010 Aug 14 doi: 10.1016/j.bjps.2010.07.016. PMID: 20708986

Diagnosis

Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Sargar KM, Singh AK, Kao SC
Radiographics 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. PMID: 29019756
Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr
Eur J Med Genet 2014 Nov-Dec;57(11-12):654-8. Epub 2014 Sep 16 doi: 10.1016/j.ejmg.2014.08.009. PMID: 25230004
Nowaczyk MJ, Irons MB
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):250-62. Epub 2012 Oct 11 doi: 10.1002/ajmg.c.31343. PMID: 23059950
Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY
Clin Genet 2012 Aug;82(2):165-72. Epub 2011 Jul 18 doi: 10.1111/j.1399-0004.2011.01742.x. PMID: 21696385

Therapy

Boctor FN, Wilkerson ML
Ann Clin Lab Sci 2014 Summer;44(3):332-3. PMID: 25117108

Prognosis

Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Park JE, Lee T, Ha K, Ki CS
Orphanet J Rare Dis 2021 Apr 9;16(1):166. doi: 10.1186/s13023-021-01789-2. PMID: 33836803Free PMC Article
Marsh DJ, Floyd D
J Plast Reconstr Aesthet Surg 2011 Apr;64(4):535-40. Epub 2010 Aug 14 doi: 10.1016/j.bjps.2010.07.016. PMID: 20708986

Clinical prediction guides

Park JE, Lee T, Ha K, Ki CS
Orphanet J Rare Dis 2021 Apr 9;16(1):166. doi: 10.1186/s13023-021-01789-2. PMID: 33836803Free PMC Article
Marsh DJ, Floyd D
J Plast Reconstr Aesthet Surg 2011 Apr;64(4):535-40. Epub 2010 Aug 14 doi: 10.1016/j.bjps.2010.07.016. PMID: 20708986
Majewski E, Goecke T, Meinecke P
Am J Med Genet 1996 May 3;63(1):185-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<185::AID-AJMG32>3.0.CO;2-I. PMID: 8723107

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