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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
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation.
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
Congenital cleft-foot deformity treatment.
Abraham E, Waxman B, Shirali S, Durkin M
J Pediatr Orthop 1999 May-Jun;19(3):404-10. PMID: 10344329
Thumb/hallux duplication and preaxial polydactyly type I.
Orioli IM, Castilla EE
Am J Med Genet 1999 Jan 29;82(3):219-24. PMID: 10215544

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
Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report.
Flora M, Diniz P, Neto AL, Teixeira N, Carvalho P, Pinto FG
J Foot Ankle Surg 2018 Jan-Feb;57(1):205-209. Epub 2017 Nov 3 doi: 10.1053/j.jfas.2017.08.003. PMID: 29103889
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

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
Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report.
Flora M, Diniz P, Neto AL, Teixeira N, Carvalho P, Pinto FG
J Foot Ankle Surg 2018 Jan-Feb;57(1):205-209. Epub 2017 Nov 3 doi: 10.1053/j.jfas.2017.08.003. PMID: 29103889
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 pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation.
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
Problems in polydactyly of the foot.
Venn-Watson EA
Orthop Clin North Am 1976 Oct;7(4):909-27. PMID: 185565

Clinical prediction guides

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).
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
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
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
Thumb/hallux duplication and preaxial polydactyly type I.
Orioli IM, Castilla EE
Am J Med Genet 1999 Jan 29;82(3):219-24. PMID: 10215544
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

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