Identification Of A De Novo Case Of Col5a1-Related Ehlers-Danlos Syndrome In An Infant In The West Indies Leading To Improved Targeted Clinical Care

A 1-year-old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers-Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state-of-the-art cardiac monitoring and appropriate symptomatic treatment for this rare disease.