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Polysyndactyly of hallux

MedGen UID:
867258
Concept ID:
C4021618
Congenital Abnormality
Synonyms: Polysyndactyly of big toe; Polysyndactyly of great toe
 
HPO: HP:0005873

Definition

Combined syndactyly and polydactyly of the great toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Polysyndactyly of hallux

Conditions with this feature

Short-rib thoracic dysplasia 6 with or without polydactyly
MedGen UID:
44252
Concept ID:
C0024507
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
MedGen UID:
341065
Concept ID:
C1856111
Disease or Syndrome

Recent clinical studies

Etiology

Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Mansour E, Yaacoub JJ, Bakouny Z, Assi A, Ghanem I
Orthop Traumatol Surg Res 2017 Feb;103(1):123-127. Epub 2016 Nov 25 doi: 10.1016/j.otsr.2016.10.001. PMID: 27894834
Abraham E, Waxman B, Shirali S, Durkin M
J Pediatr Orthop 1999 May-Jun;19(3):404-10. PMID: 10344329
Watanabe H, Fujita S, Oka I
Plast Reconstr Surg 1992 May;89(5):856-77. PMID: 1561258
Young ID, Harper PS
J Med Genet 1982 Aug;19(4):286-8. doi: 10.1136/jmg.19.4.286. PMID: 7120317Free PMC Article

Diagnosis

Brucato MP, Lin DY
Clin Podiatr Med Surg 2022 Jan;39(1):73-87. doi: 10.1016/j.cpm.2021.08.002. PMID: 34809796
Stauffer A, Farr S
BMC Musculoskelet Disord 2020 Nov 28;21(1):788. doi: 10.1186/s12891-020-03812-2. PMID: 33248465Free PMC Article
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Kalyan M, Kanitkar S, John R, Gireesh G, Bhate A, Mithun M
J Assoc Physicians India 2012 Oct;60:50-2. PMID: 23777026
Ghysen D, Vanhoenacker F, De Schepper A, Dumon J
JBR-BTR 1999 Jun;82(3):111. PMID: 11155868

Prognosis

Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Stomnaroska O, Danilovski D, Ivanovska S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016. PMID: 29668474
Trusen A, Beissert M, Collmann H, Darge K
Pediatr Radiol 2003 Mar;33(3):168-72. Epub 2002 Nov 12 doi: 10.1007/s00247-002-0823-3. PMID: 12612814
Young ID, Harper PS
J Med Genet 1982 Aug;19(4):286-8. doi: 10.1136/jmg.19.4.286. PMID: 7120317Free PMC Article
Venn-Watson EA
Orthop Clin North Am 1976 Oct;7(4):909-27. PMID: 185565

Clinical prediction guides

Soldado F, Prieto-Mere JA, Cherqaoui A, Diaz Gallardo P, Knorr J, Corona P
Microsurgery 2024 Feb;44(2):e31151. doi: 10.1002/micr.31151. PMID: 38363104
Mubungu G, Lukute G, Makay P, Songo C, Lukusa P, Devriendt K, Lumaka A
Am J Med Genet A 2020 Jul;182(7):1572-1575. Epub 2020 May 14 doi: 10.1002/ajmg.a.61617. PMID: 32406590
Stomnaroska O, Danilovski D, Ivanovska S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016. PMID: 29668474
Burger EB, Hovius SE, Burger BJ, van Nieuwenhoven CA
J Bone Joint Surg Am 2016 Aug 3;98(15):1298-306. doi: 10.2106/JBJS.15.01416. PMID: 27489321
Orioli IM, Castilla EE
Am J Med Genet 1999 Jan 29;82(3):219-24. PMID: 10215544

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