U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
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
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Alkuraya FS, Picker J, Irons MB, Kimonis VE
Birth Defects Res A Clin Mol Teratol 2005 Aug;73(8):569-71. doi: 10.1002/bdra.20165. PMID: 15965973
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
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
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
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.
Linck LM, Hayflick SJ, Lin DS, Battaile KP, Ginat S, Burlingame T, Gibson KM, Honda M, Honda A, Salen G, Tint GS, Connor WE, Steiner RD
Prenat Diagn 2000 Mar;20(3):238-40. PMID: 10719329

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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...