Syndrome with congenital heart disease, distinctive facies, skeletal anomalies and developmental delay.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital
- Gene(s) involved
- KDM6A, KMT2D
- Alternative names & eponyms
- Niikawa–Kuroki syndrome
Etiology & mechanism
Histone methylation defects.
Gene(s) involved (2)
Symptoms & signs (9)
In plain terms, someone with Kabuki syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Brain–lung–thyroid syndrome
developmental delay, hypotonia
2 shared
Cardio-facio-cutaneous syndrome
developmental delay, feeding problems
2 shared
Cardiofaciocutaneous syndrome
atrial septal defect, feeding problems
2 shared
Holt–Oram syndrome
atrial septal defect, ventricular septal defect
2 shared
Joubert syndrome
developmental delay, hypotonia
2 shared
Phelan–McDermid syndrome
developmental delay, hypotonia
2 shared
Ritscher–Schinzel syndrome
developmental delay, hypotonia
2 shared
Sotos syndrome
developmental delay, hypotonia
2 shared
Temple syndrome
feeding problems, hypotonia
1 shared
Aase–Smith syndrome
ventricular septal defect
Shares genes with
None.
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