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Brachydactyly-preaxial hallux varus syndrome

MedGen UID:
349442
•Concept ID:
C1862162
•
Disease or Syndrome
Synonyms: Brachydactyly preaxial with hallux varus and thumb abduction; CHRISTIAN BRACHYDACTYLY; Dominant preaxial brachydactyly with hallux varus and thumb abduction
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007214
OMIM®: 112450
Orphanet: ORPHA1278

Definition

A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. [from ORDO]

Clinical features

From HPO
Hitchhiker thumb
MedGen UID:
609206
•Concept ID:
C0431887
•
Congenital Abnormality
With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
See: Feature record | Search on this feature
Short thumb
MedGen UID:
98469
•Concept ID:
C0431890
•
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
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
Short metacarpal
MedGen UID:
323064
•Concept ID:
C1837084
•
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
See: Feature record | Search on this feature
Short distal phalanx of finger
MedGen UID:
326590
•Concept ID:
C1839829
•
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
See: Feature record | Search on this feature
Short metatarsal
MedGen UID:
341358
•Concept ID:
C1849020
•
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
See: Feature record | Search on this feature
Short hallux
MedGen UID:
400890
•Concept ID:
C1865992
•
Finding
Underdevelopment (hypoplasia) of the big toe.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly-preaxial hallux varus syndrome
Follow this link to review classifications for Brachydactyly-preaxial hallux varus syndrome in Orphanet.

Recent clinical studies

Etiology

The Incidence of Complications Following Scarf Osteotomy for the Treatment of Hallux Valgus: A Systematic Review With Meta-Analysis.
Sieloff MR, Tokarski AR, Elliott AD, Jacobs PM, Borgert AJ
J Foot Ankle Surg 2023 Jul-Aug;62(4):610-617. Epub 2022 Nov 28 doi: 10.1053/j.jfas.2022.11.017. PMID: 37097272
Operative correction of arch collapse with forefoot deformity: a retrospective analysis of outcomes.
Habbu R, Holthusen SM, Anderson JG, Bohay DR
Foot Ankle Int 2011 Aug;32(8):764-73. doi: 10.3113/FAI.2011.0764. PMID: 22049862
Hemicallotasis for correction of varus deformity of the proximal tibia using a unilateral external fixator.
Oh CW, Kim SJ, Park SK, Kim HJ, Kyung HS, Cho HS, Park BC, Ihn JC
J Orthop Sci 2011 Jan;16(1):44-50. Epub 2011 Jan 20 doi: 10.1007/s00776-010-0006-2. PMID: 21249403
Prospective comparative study of the scarf and Ludloff osteotomies in the treatment of hallux valgus.
Robinson AH, Bhatia M, Eaton C, Bishop L
Foot Ankle Int 2009 Oct;30(10):955-63. doi: 10.3113/FAI.2009.0955. PMID: 19796589
The risks and benefits of distal first metatarsal osteotomies.
Meier PJ, Kenzora JE
Foot Ankle 1985 Aug;6(1):7-17. doi: 10.1177/107110078500600103. PMID: 4043893

Diagnosis

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
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
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM
J Hum Genet 2017 Apr;62(4):465-471. Epub 2016 Dec 22 doi: 10.1038/jhg.2016.151. PMID: 28003643Free PMC Article
Lesser toe deformities.
Shirzad K, Kiesau CD, DeOrio JK, Parekh SG
J Am Acad Orthop Surg 2011 Aug;19(8):505-14. doi: 10.5435/00124635-201108000-00006. PMID: 21807918
Hallux limitus and hallux rigidus. Clinical examination, radiographic findings, and natural history.
Camasta CA
Clin Podiatr Med Surg 1996 Jul;13(3):423-48. PMID: 8829034

Therapy

The Incidence of Complications Following Scarf Osteotomy for the Treatment of Hallux Valgus: A Systematic Review With Meta-Analysis.
Sieloff MR, Tokarski AR, Elliott AD, Jacobs PM, Borgert AJ
J Foot Ankle Surg 2023 Jul-Aug;62(4):610-617. Epub 2022 Nov 28 doi: 10.1053/j.jfas.2022.11.017. PMID: 37097272
The risks and benefits of distal first metatarsal osteotomies.
Meier PJ, Kenzora JE
Foot Ankle 1985 Aug;6(1):7-17. doi: 10.1177/107110078500600103. PMID: 4043893

Prognosis

The Incidence of Complications Following Scarf Osteotomy for the Treatment of Hallux Valgus: A Systematic Review With Meta-Analysis.
Sieloff MR, Tokarski AR, Elliott AD, Jacobs PM, Borgert AJ
J Foot Ankle Surg 2023 Jul-Aug;62(4):610-617. Epub 2022 Nov 28 doi: 10.1053/j.jfas.2022.11.017. PMID: 37097272
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
Correction of longitudinal epiphyseal bracket disease with external fixation: a case report with 6-year follow-up period.
Scott RT, Kissel C, Miller A
J Foot Ankle Surg 2011 Nov-Dec;50(6):714-7. Epub 2011 Jun 14 doi: 10.1053/j.jfas.2011.04.038. PMID: 21664835
Hemicallotasis for correction of varus deformity of the proximal tibia using a unilateral external fixator.
Oh CW, Kim SJ, Park SK, Kim HJ, Kyung HS, Cho HS, Park BC, Ihn JC
J Orthop Sci 2011 Jan;16(1):44-50. Epub 2011 Jan 20 doi: 10.1007/s00776-010-0006-2. PMID: 21249403
Prospective comparative study of the scarf and Ludloff osteotomies in the treatment of hallux valgus.
Robinson AH, Bhatia M, Eaton C, Bishop L
Foot Ankle Int 2009 Oct;30(10):955-63. doi: 10.3113/FAI.2009.0955. PMID: 19796589

Clinical prediction guides

The Incidence of Complications Following Scarf Osteotomy for the Treatment of Hallux Valgus: A Systematic Review With Meta-Analysis.
Sieloff MR, Tokarski AR, Elliott AD, Jacobs PM, Borgert AJ
J Foot Ankle Surg 2023 Jul-Aug;62(4):610-617. Epub 2022 Nov 28 doi: 10.1053/j.jfas.2022.11.017. PMID: 37097272
Operative correction of arch collapse with forefoot deformity: a retrospective analysis of outcomes.
Habbu R, Holthusen SM, Anderson JG, Bohay DR
Foot Ankle Int 2011 Aug;32(8):764-73. doi: 10.3113/FAI.2011.0764. PMID: 22049862
Hemicallotasis for correction of varus deformity of the proximal tibia using a unilateral external fixator.
Oh CW, Kim SJ, Park SK, Kim HJ, Kyung HS, Cho HS, Park BC, Ihn JC
J Orthop Sci 2011 Jan;16(1):44-50. Epub 2011 Jan 20 doi: 10.1007/s00776-010-0006-2. PMID: 21249403
Prospective comparative study of the scarf and Ludloff osteotomies in the treatment of hallux valgus.
Robinson AH, Bhatia M, Eaton C, Bishop L
Foot Ankle Int 2009 Oct;30(10):955-63. doi: 10.3113/FAI.2009.0955. PMID: 19796589
Hallux limitus and hallux rigidus. Clinical examination, radiographic findings, and natural history.
Camasta CA
Clin Podiatr Med Surg 1996 Jul;13(3):423-48. PMID: 8829034

Recent systematic reviews

The Incidence of Complications Following Scarf Osteotomy for the Treatment of Hallux Valgus: A Systematic Review With Meta-Analysis.
Sieloff MR, Tokarski AR, Elliott AD, Jacobs PM, Borgert AJ
J Foot Ankle Surg 2023 Jul-Aug;62(4):610-617. Epub 2022 Nov 28 doi: 10.1053/j.jfas.2022.11.017. PMID: 37097272

Supplemental Content

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