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Hallux varus-preaxial polysyndactyly syndrome

MedGen UID:
341088
•Concept ID:
C1856197
•
Disease or Syndrome
Synonyms: Hallux varus and preaxial polysyndactyly; Kleiner Holmes syndrome
SNOMED CT: Kleiner Holmes syndrome (771180005); Hallux varus, preaxial polysyndactyly syndrome (771180005)
 
Monarch Initiative: MONDO:0009321
OMIM®: 234280
Orphanet: ORPHA2110

Definition

A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. [from SNOMEDCT_US]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
•Concept ID:
C0039075
•
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
See: Feature record | Search on this feature
Hallux varus
MedGen UID:
107471
•Concept ID:
C0546297
•
Anatomical Abnormality
Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
See: Feature record | Search on this feature
Preaxial hand polydactyly
MedGen UID:
237235
•Concept ID:
C1395852
•
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
See: Feature record | Search on this feature
Broad hallux
MedGen UID:
401165
•Concept ID:
C1867131
•
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHallux varus-preaxial polysyndactyly syndrome
Follow this link to review classifications for Hallux varus-preaxial polysyndactyly syndrome in Orphanet.

Recent clinical studies

Etiology

Forefoot malformations, deformities and other congenital defects in children.
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
A podoscopic and descriptive study of foot deformities in patients with Down syndrome.
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
Free fat graft for congenital hand differences.
Ogino T, Ishigaki D, Satake H, Iba K
Clin Orthop Surg 2012 Mar;4(1):45-57. Epub 2012 Feb 20 doi: 10.4055/cios.2012.4.1.45. PMID: 22379555Free PMC Article
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.
Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E
J Craniofac Surg 2002 Mar;13(2):321-6. doi: 10.1097/00001665-200203000-00028. PMID: 12000897
Congenital constriction band syndrome. Pathophysiology and treatment.
Light TR, Ogden JA
Yale J Biol Med 1993 May-Jun;66(3):143-55. PMID: 8209551Free PMC Article

Diagnosis

Pediatric Forefoot Deformities.
Brucato MP, Lin DY
Clin Podiatr Med Surg 2022 Jan;39(1):73-87. doi: 10.1016/j.cpm.2021.08.002. PMID: 34809796
Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome.
Stauffer A, Farr S
BMC Musculoskelet Disord 2020 Nov 28;21(1):788. doi: 10.1186/s12891-020-03812-2. PMID: 33248465Free PMC Article
Forefoot malformations, deformities and other congenital defects in children.
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
The Rotterdam Foot Classification: A Classification System for Medial Polydactyly of the Foot.
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
Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II.
Biswas A, Ghosh JK, Sinha MK, Basu K, Chatterjee S
J Pak Med Assoc 2009 Jul;59(7):484-6. PMID: 19579742

Prognosis

Forefoot malformations, deformities and other congenital defects in children.
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
Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn.
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
Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II.
Biswas A, Ghosh JK, Sinha MK, Basu K, Chatterjee S
J Pak Med Assoc 2009 Jul;59(7):484-6. PMID: 19579742
Malleolus externus plasty for joint reconstruction in fibular aplasia: preliminary report of a new technique.
Weber M, Siebert CH, Goost H, Johannisson R, Wirtz D
J Pediatr Orthop B 2002 Jul;11(3):265-73. doi: 10.1097/00009957-200207000-00013. PMID: 12089506
Problems in polydactyly of the foot.
Venn-Watson EA
Orthop Clin North Am 1976 Oct;7(4):909-27. PMID: 185565

Clinical prediction guides

Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn.
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
The Rotterdam Foot Classification: A Classification System for Medial Polydactyly of the Foot.
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
Acrocallosal syndrome in fetus: focus on additional brain abnormalities.
Fernandez C, Soulier M, Coulibaly B, Liprandi A, Benoit B, Giuliano F, Sigaudy S, Figarella-Branger D, Fallet-Bianco C
Acta Neuropathol 2008 Jan;115(1):151-6. Epub 2007 Jun 26 doi: 10.1007/s00401-007-0249-y. PMID: 17593378
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M
J Med Genet 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. PMID: 7666393Free PMC Article

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