| Metadata | |
|---|---|
| ID | DOID:0111599 |
| Name | distal arthrogryposis type 2B |
| Definition | A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/9012416 |
| Xrefs |
SNOMEDCT_US_2021_09_01:715216008 |
| Subsets |
DO_rare_slim |
| Synonyms |
DA2B [EXACT] Freeman-Sheldon syndrome variant [EXACT] Sheldon-Hall syndrome [EXACT] |
| Parent Relationships |