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Kabuki syndrome 2

Synonyms
KDM6A-Related Kabuki Syndrome

Summary

Excerpted from the GeneReview: Kabuki Syndrome
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Margaret P Adam
Louanne Hudgins
Mark Hannibal
view full author information

Available tests

60 tests are in the database for this condition.

Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KABUK2, UTX, bA386N14.2, KDM6A
    Summary: lysine demethylase 6A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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