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brachydactyly-preaxial hallux varus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly-preaxial hallux varus syndrome

MONDO:0007214

Also known as:Christian brachydactylypreaxial brachydactyly with hallux varus and thumb abductionbrachydactyly preaxial with hallux varus and thumb abduction

Overview

Preaxial brachydactyly-hallux varus syndrome is 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.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hitchhiker thumb, Short hallux, Short distal phalanx of finger, and Short metacarpal and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Short distal phalanx of finger

Explore clinical features

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for brachydactyly-preaxial hallux varus syndrome.

1 publication has been identified in PubMed for brachydactyly-preaxial hallux varus syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112450

Orphanet

European rare disease database

Orphanet:1278

GARD

Genetic and Rare Diseases Info Center

GARD:972

Questions for Your Care Team

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brachydactyly-preaxial hallux varus syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team