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brachydactyly type B

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease 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.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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