brachydactyly type B | Kisho | Kisho

brachydactyly type B

Rare Disease

MONDO:0019676

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 t...

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Last reviewed: Feb 2026

Evidence base: Early

Associated Genes

2 genes

ROR2 NOG

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

2 genes

ROR2 NOG

Gene data from HGNC • Click to view on NCBI Gene

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(5 data sources · Data coverage: Limited)

Overview

Brachydactyly type B is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

Brachydactyly type B is characterized by incomplete development or absence of the distal phalanges of the fingers and toes. The inheritance pattern is autosomal dominant. There are two types of this condition, with type 1 caused by mutations in the ROR2 gene and type 2 caused by mutations in the NOG gene.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries and online patient communities may provide additional support and resources.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

2 genes

ROR2 NOG

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

External Resources

Orphanet

European rare disease database

Orphanet:93383

GARD

Genetic and Rare Diseases Info Center

GARD:985

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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brachydactyly type B

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

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