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.