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brachydactyly type B2 (BDB2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type B2

MONDO:0012658

Also known as:BDB2brachydactyly, type B2

Overview

Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

GeneticsAutosomal dominant · NOG (chr 17)

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 always present findings: Proximal symphalangism of hands, Carpal synostosis, and Distal symphalangism of hands; and common findings: Absent phalangeal crease, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, and Aplasia/Hypoplasia of the middle phalanges of the toes and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	9	Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the middle phalanges of the toes

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.

NOG encodes noggin (232 aa). Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Highest expression in Cervix Ectocervix (8.8 TPM) and Cervix Endocervix (7.4 TPM).

Brachydactyly type B2 is associated with mutations in the NOG gene on chromosome 17.

The NOG protein participates in p75NTR interacts with the NOGO receptor and Formation of paraxial mesoderm pathways.

NOG is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for NOG is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 11 common features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611377

Orphanet

European rare disease database

Orphanet:140908

GARD

Genetic and Rare Diseases Info Center

GARD:16963

Questions for Your Care Team

→Should I pursue genetic testing for NOG, 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?

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brachydactyly type B2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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