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2-4 finger syndactyly

MedGen UID:
866881
Concept ID:
C4021236
Anatomical Abnormality
Synonyms: Syndactyly of second to fourth fingers; Webbed index through ring fingers
 
HPO: HP:0010709

Definition

Syndactyly with fusion of the fingers two to four. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV2-4 finger syndactyly

Conditions with this feature

EEM syndrome
MedGen UID:
341679
Concept ID:
C1857041
Congenital Abnormality
EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by Kjaer et al., 2005).
Ectodermal dysplasia-syndactyly syndrome 1
MedGen UID:
462157
Concept ID:
C3150807
Disease or Syndrome
Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.
Meier-Gorlin syndrome 7
MedGen UID:
934705
Concept ID:
C4310738
Disease or Syndrome
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.
Sweeney-Cox syndrome
MedGen UID:
1625659
Concept ID:
C4540299
Disease or Syndrome
Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Townes-Brocks syndrome 1
MedGen UID:
1635275
Concept ID:
C4551481
Disease or Syndrome
Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation.

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
Winge MI, Røkkum M
J Pediatr Orthop 2021 May-Jun 01;41(5):312-318. doi: 10.1097/BPO.0000000000001785. PMID: 33710128
McQuillan TJ, Hawkins JE, Ladd AL
J Hand Surg Am 2017 Sep;42(9):749.e1-749.e7. Epub 2017 Jun 23 doi: 10.1016/j.jhsa.2017.05.011. PMID: 28648327
Kapoor S, Bhuhsan S, Ghosh VB, Pandey RM, Kalaivani M
Indian J Pediatr 2012 May;79(5):619-31. Epub 2011 Nov 9 doi: 10.1007/s12098-011-0572-0. PMID: 22069166

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
Kapoor S, Bhuhsan S, Ghosh VB, Pandey RM, Kalaivani M
Indian J Pediatr 2012 May;79(5):619-31. Epub 2011 Nov 9 doi: 10.1007/s12098-011-0572-0. PMID: 22069166

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
Winge MI, Røkkum M
J Pediatr Orthop 2021 May-Jun 01;41(5):312-318. doi: 10.1097/BPO.0000000000001785. PMID: 33710128
McQuillan TJ, Hawkins JE, Ladd AL
J Hand Surg Am 2017 Sep;42(9):749.e1-749.e7. Epub 2017 Jun 23 doi: 10.1016/j.jhsa.2017.05.011. PMID: 28648327

Clinical prediction guides

McQuillan TJ, Hawkins JE, Ladd AL
J Hand Surg Am 2017 Sep;42(9):749.e1-749.e7. Epub 2017 Jun 23 doi: 10.1016/j.jhsa.2017.05.011. PMID: 28648327
Kapoor S, Bhuhsan S, Ghosh VB, Pandey RM, Kalaivani M
Indian J Pediatr 2012 May;79(5):619-31. Epub 2011 Nov 9 doi: 10.1007/s12098-011-0572-0. PMID: 22069166

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