Musculoskeletal phenotypes in 3q29 deletion syndrome.

Area of Science:

• Genetics
• Orthopedics
• Developmental Biology

Background:

• 3q29 deletion syndrome (3q29del) is a rare genetic disorder linked to neurodevelopmental and psychiatric conditions, notably a >40-fold increased risk for schizophrenia.
• The full spectrum of medical phenotypes associated with 3q29del, particularly musculoskeletal manifestations, remains incompletely understood.

Approach:

• Recruited 57 individuals with 3q29del from an online registry (3q29deletion.org).
• Administered a custom questionnaire to gather detailed information on musculoskeletal phenotypes.
• Analyzed reported symptoms, including congenital anomalies, fatigue, and bone fractures, comparing prevalence to the general pediatric population.

Key Points:

• Over 85% of individuals with 3q29del reported at least one musculoskeletal phenotype.
• Commonly observed anomalies include pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%).
• Increased prevalence of fatigue (49.12%) and bone fractures (8.77%) suggests potential impacts on bone strength and endurance.

Conclusions:

• Musculoskeletal phenotypes are a significant and common feature of 3q29 deletion syndrome, impacting quality of life.
• Findings suggest the need for targeted clinical evaluation for musculoskeletal issues in individuals with 3q29del.
• This study provides the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, expanding the understanding of its phenotypic spectrum.