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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.
See: Condition Record
Greig cephalopolysyndactyly syndrome

Recent clinical studies

Etiology

Clinical Manifestations of Constriction Band Syndrome.
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
Smith-Lemli-Opitz syndrome among Arabs.
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
Toe syndactyly revisited.
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
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Matsumoto Y, Morishima KI, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S
J Hum Genet 2005;50(7):353-356. Epub 2005 Jul 26 doi: 10.1007/s10038-005-0267-3. PMID: 16044199
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
Prasad C, Marles S, Prasad AN, Nikkel S, Longstaffe S, Peabody D, Eng B, Wright S, Waye JS, Nowaczyk MJ
Am J Med Genet 2002 Feb 15;108(1):64-8. doi: 10.1002/ajmg.10211. PMID: 11857552

Diagnosis

Clinical Manifestations of Constriction Band Syndrome.
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
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC
Radiographics 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. PMID: 29019756
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
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
Smith-Lemli-Opitz syndrome among Arabs.
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
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW
J Korean Med Sci 2010 Jan;25(1):159-62. Epub 2009 Dec 26 doi: 10.3346/jkms.2010.25.1.159. PMID: 20052364Free PMC Article

Therapy

Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis.
Boctor FN, Wilkerson ML
Ann Clin Lab Sci 2014 Summer;44(3):332-3. PMID: 25117108

Prognosis

Refinement of Surgery for Postaxial Polysyndactyly of the Toes: Esthetic Outcome in Japanese Feet.
Ishikawa K, Furukawa H, Yamamoto Y, Funayama E, Miura T, Maeda T
Ann Plast Surg 2024 Jun 1;92(6):694-699. Epub 2024 Mar 26 doi: 10.1097/SAP.0000000000003886. PMID: 38717189
Clinical Manifestations of Constriction Band Syndrome.
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
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
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
Toe syndactyly revisited.
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

Refinement of Surgery for Postaxial Polysyndactyly of the Toes: Esthetic Outcome in Japanese Feet.
Ishikawa K, Furukawa H, Yamamoto Y, Funayama E, Miura T, Maeda T
Ann Plast Surg 2024 Jun 1;92(6):694-699. Epub 2024 Mar 26 doi: 10.1097/SAP.0000000000003886. PMID: 38717189
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
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
Toe syndactyly revisited.
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
Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?
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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