Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.
Daisuke Ariyasu, Rika Kosaki, Hideo Cho et al.
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Case in brief
This report details two Japanese patients, an 8-year-old girl and a 19-year-old boy, diagnosed with Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Faces (IDDSADF). Both presented with developmental delays, distinctive facial features including a thin, tented upper lip, and short stature. Genetic analysis revealed pathogenic CNOT3 variants, expanding the understanding of this disorder's phenotype.
What made this case unusual
The thin, tented upper lip observed in both patients is a morphology rarely reported in other cohorts, suggesting it may be an ethnicity-associated trait.
Diagnostic / clinical pearl
Clinicians should consider the possibility of IDDSADF in patients with developmental delays and distinctive facial features, particularly in populations where it has not been previously reported.
Why it matters
This case emphasizes the need for awareness of potential ethnicity-associated traits in the clinical diagnosis of rare genetic disorders, which may aid in accurate identification and management.