Van Maldergem syndrome

Term ID

DOID:0060238

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. https://www.ncbi.nlm.nih.gov/pubmed/1633641

References

• GARD:5456
• MESH:C536530
• OMIM:PS601390
• ORDO:314679
• SNOMEDCT_US_2023_03_01:763353000
• UMLS_CUI:C1832390

Ontology

Human Disease   ( DOID:0060238 )