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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.
 
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.
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
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.
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.
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.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.

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

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
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
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
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
Meier PJ, Kenzora JE
Foot Ankle 1985 Aug;6(1):7-17. doi: 10.1177/107110078500600103. PMID: 4043893

Diagnosis

Stauffer A, Farr S
BMC Musculoskelet Disord 2020 Nov 28;21(1):788. doi: 10.1186/s12891-020-03812-2. PMID: 33248465Free PMC Article
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
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
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
Camasta CA
Clin Podiatr Med Surg 1996 Jul;13(3):423-48. PMID: 8829034

Therapy

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
Meier PJ, Kenzora JE
Foot Ankle 1985 Aug;6(1):7-17. doi: 10.1177/107110078500600103. PMID: 4043893

Prognosis

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
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
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
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
Robinson CM, O'Donnell J, Will E, Keating JF
J Bone Joint Surg Br 1999 May;81(3):481-4. doi: 10.1302/0301-620x.81b3.9140. PMID: 10872371

Clinical prediction guides

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
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
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
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
Camasta CA
Clin Podiatr Med Surg 1996 Jul;13(3):423-48. PMID: 8829034

Recent systematic reviews

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

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