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New research · Orthopedics
American journal of medical genetics. Part A · 1d
Cohort studyAmerican journal of medical genetics. Part A · 2026

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

Ambar Garcia, Rachel Salazar, Nicole Holuba … Joshua Hyman
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OrthopedicsCohort study

Pes planovalgus is common in X-linked HNRNPH2-related neurodevelopmental disorder.

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

Ambar Garcia et al. · American journal of medical genetics. Part A · 2026
Background

Detailed clinical phenotypes have been previously reported for 33 individuals with X-linked HNRNPH2-related neurodevelopmental disorder.

Purpose

By highlighting common musculoskeletal and orthopedic issues, this series aims to support timely recognition and provide recommendations for appropriate screening and treatment strategies.

Results

of individuals with this disorder had flat feet that rolled inward

89%
Pes planovalgus
47%
restricted hip extensi
37%
reduced ankle dorsifle
21%
scoliosis
More results

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.

More results

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.

“
Conclusion

By highlighting common musculoskeletal and orthopedic issues, this series aims to support timely recognition and provide recommendations for appropriate screening and treatment strategies.

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