Details of Disease

General Information of Disease (ID: DISOPY31)

• Disease Name: Brachydactyly type B
• Definition: 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.
• Disease Hierarchy:
  DIS2533F: Brachydactyly
  DISOPY31: Brachydactyly type B
• Disease Identifiers:
  MONDO ID: MONDO_0019676
  UMLS CUI: C1300267
  MedGen ID: 722046
  HPO ID: HP:0005831
  SNOMED CT ID: 389168002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ROR2	TTUDPCI	Definitive	GermlineCausalMutation	[1]

References

• [1] Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12.