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Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients
1Department of Human Genetics, Allegheny-Singer Research Institute, Pittsburgh, Pennsylvania 15212-4772, USA.
Summary
Kabuki syndrome, a rare genetic disorder, presents unique facial features, developmental delays, and musculoskeletal issues in non-Japanese patients. This study highlights its prevalence in diverse populations, particularly those with cleft palate.
Area of Science:
- Genetics
- Medical diagnostics
- Rare diseases
Background:
- Kabuki syndrome is a rare genetic disorder.
- The term "Kabuki Make-up syndrome" has been used, but the authors suggest removing "make-up".
- The syndrome is characterized by a distinct facial appearance, developmental delay, and skeletal abnormalities.
Observation:
- Eight non-Japanese patients with Kabuki syndrome were studied.
- Clinical features evolve over time, complicating early diagnosis.
- Progressive changes in facial features and musculoskeletal issues suggest a connective tissue defect.
Findings:
- Kabuki syndrome occurs in non-Japanese populations.
- The syndrome is more prevalent than previously thought, especially in individuals with cleft palate.
- Characteristic facies, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences are key indicators.
Implications:
- Revising the syndrome's name may improve family acceptance.
- Increased awareness of Kabuki syndrome in diverse populations is needed for timely diagnosis and management.
- Further research into the underlying connective tissue defect is warranted.