Syndromic Autism and Distinct Craniofacial Dysmorphism: Evidence for a Novel Autism Facial Dysmorphism Syndrome

Advisor Doctor and Expert Trainer, Baghdad Medical City and Iraqi Ministry of Health Baghdad, Iraq

*Corresponding Author: Aamir Jalal Al-Mosawi, Advisor Doctor and Expert Trainer, Baghdad Medical City and Iraqi Ministry of Health Baghdad, Iraq, Email: [email protected]

Received Date: October 16, 2025

Published Date: November 14, 2025

Citation: Al-Mosawi AJ. (2025). Syndromic Autism and Distinct Craniofacial Dysmorphism: Evidence for a Novel Autism Facial Dysmorphism Syndrome. Mathews J Psychiatry Ment Health. 10(3):57.

Copyrights: Al-Mosawi AJ. (2025).

ABSTRACT

Background: Autism disorders are a very complicated and multifarious group of chronic disorders that are characterized by early impairment in social interaction and communication. The diagnosis of autism is clinical and is based on the presence of characteristic diagnostic manifestations resulting from impaired social interaction and communication, which cause the two major diagnostic features of autism: the lack of appropriate responsiveness to one's own name and the lack of eye contact. Poor speech development with difficulties in using and understanding language, and repetitive body movements including hand flapping, and spinning, or behavior patterns are important associated features of autism disorders. Case report: A six-year-old boy with autism disorder and cognitive impairment who displays a distinct constellation of craniofacial dysmorphic features. These include low-set, posteriorly rotated ears, mild hypertelorism, down-slanting palpebral fissures, a broad nasal bridge with a bulbous tip, full cheeks, flat midface, short indistinct philtrum, retrognathia, thin upper lip, and a short neck. There is no parental consanguinity, and no similar cases in the family. The phenotypic presentation does not align with any currently known genetic syndromes associated with autism, suggesting the possibility of a novel syndromic autism phenotype. We propose that this case represents a previously uncharacterized autism facial dysmorphism syndrome and highlight the need for further genetic investigations and phenotypic comparisons. Conclusion: This paper highlights a unique clinical entity “Syndromic Autism with Distinct Craniofacial Dysmorphism”.

Keywords: Syndromic Autism, Craniofacial Dysmorphism, New Clinical Entity.