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Kabuki syndrome: a review.
1Division of Medical Genetics, Stanford University, Stanford, CA 94305-5208, USA. mlp@stanford.edu
Clinical Genetics
|February 5, 2005
Summary
Kabuki syndrome (KS) is a rare genetic disorder with distinctive facial features, developmental delays, and organ system anomalies. This review details its diagnosis, features, and potential causes.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Kabuki syndrome (KS), also known as Niikawa-Kuroki syndrome, is a rare multiple malformation and mental retardation disorder.
- Initially described in Japan, KS is now recognized globally across diverse ethnic groups.
Purpose of the Study:
- To provide a comprehensive overview of Kabuki syndrome.
- To focus on diagnostic criteria, common and rare clinical manifestations across organ systems, and the potential etiology of KS.
Main Methods:
- This is a review article, synthesizing existing literature and clinical observations.
- Focuses on diagnostic criteria and clinical features reported in medical literature.
Main Results:
- KS is characterized by distinctive facial features including everted lower eyelids, sparse lateral eyebrows, a depressed nasal tip, and prominent ears.
- Associated anomalies include skeletal abnormalities, dermatoglyphic variations, short stature, and intellectual disability.
- Other organ system involvement can aid in diagnosis and management.
Conclusions:
- Accurate diagnosis and management of KS require awareness of its diverse clinical spectrum.
- Further research into the etiology of KS is warranted to improve understanding and treatment.
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