Musculoskeletal Phenotypes of 19 Patients With X-Linked HNRNPH2-Related Neurodevelopmental Disorder: A Prospective Case Series.

Of these, 75% self-reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.

Musculoskeletal phenotypes, screening recommendations, and treatment strategies have not been previously described.

This case series presents a comprehensive overview of the musculoskeletal and orthopedic evaluations performed on 19 individuals diagnosed with X-linked HNRNPH2-related neurodevelopmental disorder (H2-RNDD).

The evaluations cover standardized assessments of the spine, hips, knees, ankles, and feet.