Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Am J Med Genet C Semin Med Genet
; 193(2): 128-138, 2023 06.
Article
in En
| MEDLINE
| ID: mdl-37296540
ABSTRACT
Kabuki syndrome is a recognizable Mendelian disorder characterized by the clinical constellation of childhood hypotonia, developmental delay or intellectual impairment, and characteristic dysmorphism resulting from monoallelic pathogenic variants in KMT2D or KDM6A. In the medical literature, most reported patients are children, and data is lacking on the natural history of the condition across the lifespan, with little known about adult-specific presentations and symptoms. Here, we report the results of a retrospective chart review of eight adult patients with Kabuki syndrome, seven of whom are molecularly confirmed. We use their trajectories to highlight the diagnostic challenges unique to an adult population, expand on neurodevelopmental/psychiatric phenotypes across the lifespan, and describe adult-onset medical complications, including a potential cancer risk and unusual and striking premature/accelerated aging phenotype.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Hematologic Diseases
Type of study:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Am J Med Genet C Semin Med Genet
Journal subject:
GENETICA MEDICA
Year:
2023
Document type:
Article
Affiliation country:
United States