Term Name: Van Maldergem syndrome
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)

Relationships
is a type of: autosomal recessive disease syndrome
has subtype: Van Maldergem syndrome 1 Van Maldergem syndrome 2