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brachydactyly-elbow wrist dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly-elbow wrist dysplasia syndrome

MONDO:0008520

Also known as:Liebenberg syndromebrachydactyly-joint dysplasia syndromeLBNBG

Overview

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

GeneticsAutosomal dominant

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: Joint contracture of the 5th finger, Metaphyseal widening, Brachydactyly, and 2-3 finger cutaneous syndactyly and 3 more.

Organ System	Phenotype Count	Example Features
Muscles	2	Joint contracture of the 5th finger, Elbow flexion contracture

Diagnosis

Biomarker and diagnostic research for brachydactyly-elbow wrist dysplasia syndrome has been reported in the published literature.

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-elbow wrist dysplasia syndrome.

111 publications have been identified in PubMed for brachydactyly-elbow wrist dysplasia syndrome. Research spans Review / Meta-Analysis (62%), Basic Science / Preclinical (15%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	69	62%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186550

Orphanet

European rare disease database

Orphanet:1275

GARD

Genetic and Rare Diseases Info Center

GARD:966

Questions for Your Care Team

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brachydactyly-elbow wrist dysplasia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

brachydactyly-elbow wrist dysplasia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications