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brachydactyly type B
Classification:
- brachydactyly type B1
Genetics:
- autosomal dominant
- associated with defects in ROR2 (type B1)
Clinical manifestations:
- brachydactyly, syndactyly
- hypoplasia/aplasia of distal phalanges & nails
- the middle phalanges are short
- the terminal phalanges are rudimentary or absent
- both fingers & toes are affected
- the thumbs & big toes are usually deformed
General
brachydactyly (microdactyly)
Database Correlations
OMIM correlations
MORBIDMAP 602337
References
- OMIM :accession 113000
- Oldridge et al. Nature Genetics 24:275-8, 2000