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GTR Home > Conditions/Phenotypes > Brachydactyly type B1

Brachydactyly type B1

Summary

A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands. [from ORDO]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDB, BDB1, NTRKR2, ROR2
    Summary: receptor tyrosine kinase like orphan receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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