Metadata | |
---|---|
ID | DOID:0110968 |
Name | brachydactyly type A6 |
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 |
Xrefs |
SNOMEDCT_US_2023_03_01:715722003 |
Subsets |
DO_rare_slim |
Synonyms |
BDA6 [EXACT] brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities [EXACT] Osebold-Remondini syndrome [EXACT] |
Parent Relationships |
is_a brachydactyly |