Is any connection genetically between ehler danlos syndrome and autism

There is emerging evidence suggesting a genetic and clinical connection between Ehlers-Danlos syndrome (EDS), particularly the hypermobile subtype (hEDS), and autism spectrum disorder (ASD).

The genetic basis of hEDS—the most common and yet genetically elusive subtype of EDS—has recently been illuminated by genome-wide association studies which identify common variant contributions implicating neuroimmune and connective tissue pathways. Specifically, loci near genes such as ACKR3 (involved in neuroimmune and pain signaling) and SLC39A13 (important for connective tissue development) have been associated with hEDS, and genetic correlations have been observed between hEDS and ASD, alongside other neuropsychiatric and somatic conditions Petrucci-Nelson et al. 2025 Crompton et al. 2026.

Clinically, research shows that autistic adults frequently present with higher rates of hypermobility-related symptoms consistent with hEDS or hypermobility spectrum disorders (HSD), reporting more severe systemic manifestations, including musculoskeletal, neurological, and immune-related symptoms, compared to non-autistic counterparts Crompton et al. 2026. This co-occurrence is not incidental, as population-level data indicate increased prevalence of hypermobility signs in autistic individuals and vice versa Baeza-Velasco et al. 2018 Casanova et al. 2020.

Although ASD is generally recognized as having a complex polygenic and multifactorial etiology, the overlap with connective tissue disorders such as EDS suggests shared genetic and neurodevelopmental pathways may contribute to joint hypermobility, neurodivergent traits, and altered sensory processing Westerman et al. 2025. Specifically, altered proprioception and interoception related to connective tissue abnormalities might contribute to neurodevelopmental features noted in ASD and emotional dysregulation Westerman et al. 2025 Sinibaldi et al. 2015.

UK clinical guidelines acknowledge ASD as having a complex cause with multiple genetic and environmental factors but do not explicitly describe connective tissue disorders as causal; however, they do highlight associated coexisting conditions that significantly impact wellbeing (e.g., anxiety, sensory issues), which align with clinical manifestations seen in EDS (especially hEDS) (NICE CKS Autism in adults NICE CKS).

The convergence of clinical presentation and genetic findings supports a model where hEDS and ASD may share overlapping biological pathways, including neuroimmune and connective tissue dysregulation. This emerging understanding underscores the importance of screening for hypermobility in autistic individuals, and vice versa, to improve diagnosis and tailored management Crompton et al. 2026 Baeza-Velasco et al. 2018 Petrucci-Nelson et al. 2025.