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brachydactyly type B1 (BDB1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type B1

MONDO:0007220

Also known as:BDB1ROR2 brachydactyly type Bbrachydactyly type B caused by mutation in ROR2

Overview

Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.

GeneticsAutosomal dominant · ROR2 (chr 9)

OnsetCONGENITAL

ResearchLimited published research (3 articles)

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 very common findings: Aplasia/Hypoplasia of the distal phalanges of the hand; and sometimes findings: Cutaneous finger syndactyly. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Cutaneous finger syndactyly, Joint contracture of the hand, Hypoplastic fingernail

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ROR2 function has not been fully characterized.

Brachydactyly type B1 is associated with mutations in the ROR2 gene on chromosome 9.

GeneReviews

Clinical Guidance

No genotype-phenotype correlations are known.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

ROR2-related Robinow syndrome should be suspected in individuals with the following clinical findings and .

Clinical Findings

Craniofacial findings in early childhood :

Source: GeneReviews — "ROR2-Related Robinow Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for brachydactyly type B1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ROR2-related Robinow syndrome, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The following are appropriate:

Surveillance for evidence of scoliosis until growth is completed
Dental evaluation every six months to one year or as recommended by the dental professional on initial assessment
Regular cardiac and renal assessment by respective specialists as needed if abnormalities are identified

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 type B1.

3 publications have been identified in PubMed for brachydactyly type B1. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Saeki N (2026). [PMID: 40995872](https://pubmed.ncbi.nlm.nih.gov/40995872/). *Developmental dynamics : an official publication of the American Association of Anatomists*. [Review / Meta-Analysis]
AbuHaweeleh MN (2024). [PMID: 38826861](https://pubmed.ncbi.nlm.nih.gov/38826861/). *Journal of surgical case reports*. [Case Report / Case Series]
Ren H (2024). [PMID: 38684301](https://pubmed.ncbi.nlm.nih.gov/38684301/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113000

Orphanet

European rare disease database

Orphanet:572385

GARD

Genetic and Rare Diseases Info Center

GARD:18009

Questions for Your Care Team

→Should I pursue genetic testing for ROR2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

brachydactyly type B1

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

brachydactyly type B1

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials