What is another name for Kabuki syndrome?

Jan 15, 2025 Source: Cainiu Health

Dr. Lv Zhiqin

Introduction

In general, Kabuki syndrome, also known as Kabuki mask syndrome, is a relatively rare congenital disorder affecting multiple systems. If related symptoms appear, timely medical consultation is recommended. Patients with Kabuki syndrome are advised to undergo prompt diagnosis and treatment to alleviate symptoms, improve quality of life, and reduce the occurrence of complications.

Generally, Kabuki syndrome, also known as Kabuki mask syndrome, is a relatively rare congenital disorder involving multiple systems. If related symptoms appear, prompt medical attention is recommended. A detailed explanation is as follows:

Kabuki syndrome, also known as Kabuki mask syndrome, is a genetic disorder caused by specific gene mutations. When these mutations occur, they can interfere with normal developmental processes, leading to distinctive facial features in affected individuals, such as widely spaced eyes, slanted eyelids, long eyelashes, and large eyes. These features resemble the makeup worn by traditional Japanese Kabuki actors, hence the name Kabuki mask syndrome.

For families with a history of Kabuki mask syndrome, maintaining healthy lifestyle habits and avoiding adverse environmental factors may help prevent the condition. Additionally, with timely intervention and appropriate supportive care, some patients with Kabuki mask syndrome can achieve a certain degree of improvement or recovery, so prompt medical evaluation is advised.

It is recommended that individuals with Kabuki mask syndrome receive timely diagnosis and treatment to alleviate symptoms, improve quality of life, and reduce the risk of complications.

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How is Kabuki Syndrome diagnosed?

Kabuki syndrome, also known as Kabuki mask syndrome, is typically diagnosed based on distinctive facial features, physical examination, laboratory tests, imaging studies, and genetic testing. If abnormalities are detected, prompt medical attention is recommended. Children suspected of having Kabuki mask syndrome should seek timely medical evaluation for comprehensive examination and diagnosis, to enable early implementation of appropriate intervention measures.

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Can non-invasive testing detect Kabuki syndrome?

Kabuki syndrome, also known as Kabuki mask syndrome, refers to a genetic disorder. "Non-invasive" refers to non-invasive prenatal testing (NIPT). Kabuki mask syndrome is difficult to diagnose definitively through non-invasive prenatal testing alone. Diagnosing Kabuki mask syndrome may require genetic testing, including whole exome sequencing and targeted gene testing, to thoroughly analyze the associated genes and identify the presence of pathogenic mutations.