Term Name: | Van Maldergem syndrome |
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Synonyms: | cerebro-facio-articular 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. |
Ontology: | Human Disease [DOID:0060238] ( DOID:0060238 ) |