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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

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Kabuki syndrome: a review.

M P Adam¹, L Hudgins

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.

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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.