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brachydactyly type B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type B

MONDO:0019676

Overview

A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.

OnsetCONGENITAL

TreatmentsNo approved treatments · 1 in pipeline

ResearchLimited published research (2 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.

No HPO annotations are available for this condition.

Age of onset: at birth.

GeneReviews

Clinical Guidance

ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial. Facies are characteristic at birth and in early childhood . The face in early childhood resembles a fetal face at eight weeks' gestation; this becomes less noticeable with age. Accelerated growth of the nose in adolescence gives the face a more normal appearance, but the broad forehead, broad nasal root, and ocular hypertelorism persist into adulthood. Midline cleft lip and palate has been reported but is not a common finding. A rather unusual form of clefting involving the lower lip has been described in some individuals.

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 B. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for brachydactyly type B, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for brachydactyly type B. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

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 B.

2 publications have been identified in PubMed for brachydactyly type B. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Griffiths SC (2024). [PMID: 38780011](https://pubmed.ncbi.nlm.nih.gov/38780011/). *Elife*. [Basic Science / Preclinical]
AbuHaweeleh MN (2024). [PMID: 38826861](https://pubmed.ncbi.nlm.nih.gov/38826861/). *J Surg Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93383

GARD

Genetic and Rare Diseases Info Center

GARD:985

Questions for Your Care Team

→What is the current development status of Trans-Cinnamic Acid, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

brachydactyly type B

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Management Guidelines

Evaluations Following Initial Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

brachydactyly type B

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Management Guidelines

Evaluations Following Initial Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials