Diagnosis

Summary

A family’s first step in receiving a diagnosis for Kabuki will be through a clinical geneticist. Together with a clinical counsellor, they provide information about inheritance patterns, calculate risks of recurrence, and refer families to other appropriate health care professionals. They may also request appropriate testing to further verify a diagnosis.

Hints for Parents

Social Stories

Social stories help our children better predict the actions and assumptions of others. There are many websites that demonstrate how to make your own!

Diagnosis Articles

MLL2 is Synonymous with KMT2D

Online articles will refer to both the KMT2D and MLL2 genei as being the causative agent in 70 - 75% of individuals with Kabuki syndrome.  This can be confusing.  In many cases, more than one name have been assigned to a specific gene, dependent on naming systems and nomenclature committees.  In this case, the two are used interchangeably.  The KMT2D gene should not be confused with the KDM6A gene, which is the second causative gene of Kabuki syndrome. 

Last Updated: Saturday, April 12, 2014 - 14:39

Computer-based Facial Recognition Software

Facial Dysmorphology Novel Analysis (FDNA) is a company that uses face-recognition software to detect syndromes that have a distinct facial gestalt by analyzing 2D facial photos.  They will provide a simple free downloadable mobile application that can be used in the clinical settings by health professionals.  

tags: Diagnosis
Last Updated: Monday, April 15, 2013 - 07:38

Genetic Testing for Kabuki Syndrome

Numerous laboratories are now offering blood tests to confirm if an individual carries the MLL2 genei mutation.

tags: Diagnosis
Last Updated: Thursday, August 11, 2011 - 16:45

Dermatoglyphics and Kabuki Syndrome

Dermatoglyphics are a helpful tool in the diagnosis of Kabuki syndrome.

tags: Diagnosis
Last Updated: Wednesday, June 1, 2011 - 11:41