| Metadata | |
|---|---|
| ID | DOID:0060238 |
| Name | Van Maldergem syndrome |
| Definition | A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. https://www.ncbi.nlm.nih.gov/pubmed/1633641 |
| Xrefs |
SNOMEDCT_US_2023_03_01:763353000 |
| Subsets |
DO_rare_slim |
| Synonyms |
cerebro-facio-articular syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |