Term Name: | Kabuki syndrome |
---|---|
Synonyms: | Kabuki make up syndrome, KMS, Niikawa-Kuroki syndrome |
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. |
Ontology: | Human Disease [DOID:0060473] ( DOID:0060473 ) |