Van Maldergem syndrome (DOID:0060238)
Alliance: disease page
Synonyms: cerebro-facio-articular syndrome
Alt IDs: MESH:C536530, OMIM:PS601390, ORDO:314679, UMLS_CUI:C1832390
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.