Kabuki syndrome
Findings
No curated finding names Kabuki syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Definition from the Mondo Disease Ontology (MONDO:0016512), read 2026-09-29. CC BY 4.0.
Features
92 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- Butterfly vertebraeHPOHP:0003316
- Very frequent (80% to 99% of cases)
- Eversion of lateral third of lower eyelidsHPOHP:0007655
- Very frequent (80% to 99% of cases)
- HemivertebraeHPOHP:0002937
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
Show the remaining 80
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- Short 5th fingerHPOHP:0009237
- Very frequent (80% to 99% of cases)
- Short columellaHPOHP:0002000
- Very frequent (80% to 99% of cases)
- Short middle phalanx of fingerHPOHP:0005819
- Very frequent (80% to 99% of cases)
- Sparse lateral eyebrowHPOHP:0005338
- Very frequent (80% to 99% of cases)
- Vertebral cleftingHPOHP:0008428
- Very frequent (80% to 99% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
3 names
Resolves to: Kabuki syndrome
- Also called
- Kabuki make-up syndromeKMSNiikawa-Kuroki syndrome