brachydactyly type B1
MONDO:0007220Mondo
Findings
No curated finding names brachydactyly type B1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007220), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the distal phalanges of the handHPOHP:0009835
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the distal phalanges of the toesHPOHP:0010185
- CamptodactylyHPOHP:0012385
- Hypoplastic fingernailHPOHP:0001804
- Hypoplastic sacrumHPOHP:0004590
- MicropenisHPOHP:0000054
- Male
- Short middle phalanx of fingerHPOHP:0005819
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ROR2HGNC:10257
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: brachydactyly type B1
- Also called
- BDB1brachydactyly type B caused by mutation in ROR2ROR2 brachydactyly type B