brachydactyly type A6

Term ID

DOID:0110968

Synonyms

• BDA6
• brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
• Osebold-Remondini syndrome

Definition

A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. https://www.ncbi.nlm.nih.gov/pubmed/4073129

References

• GARD:983
• MESH:C537092
• OMIM:112910
• ORDO:93382
• SNOMEDCT_US_2023_03_01:715722003
• UMLS_CUI:C1862130

Ontology

Human Disease   ( DOID:0110968 )