Kabuki syndrome (DOID:0060473)
Alliance: disease page
Synonyms: Kabuki make up syndrome; KMS; Niikawa-Kuroki syndrome
Alt IDs: OMIM:147920, OMIM:300867, MESH:C537705, NCI:C124837, ORDO:2322, UMLS_CUI:C0796004
Definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.