Heritable disorders of connective tissue (HDCTs) are a diverse group of inherited genetic disorders and subtypes. Because connective tissue is found throughout the body, the impairments associated with HDCTs manifest in multiple body systems and may change or vary in severity throughout an affected individual's lifetime. In some cases, these impairments may be severe enough to qualify an eligible child or adult for monetary benefits through the U.S. Social Security Administration's (SSA's) Social Security Disability Insurance or Supplemental Security Income program. SSA asked the National Academies of Sciences, Engineering, and Medicine to convene an expert committee that would provide current information regarding the diagnosis, treatment, and prognosis of selected HDCTs, including Marfan syndrome and the Ehlers-Danlos syndromes, and the effect of the disorders and their treatment on functioning. The resulting report, Selected Heritable Disorders of Connective Tissue and Disability, presents the committee's findings and conclusions.


Table of Contents


Front Matter
Summary
1 Introduction
2 Overview of Hereditary Disorders of Connective Tissue
3 Marfan Syndrome and Related Hereditary Aortopathies
4 Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders
5 Heritable Disorders of Connective Tissue and Effects on Function
6 Overall Conclusions
Appendix A: Public Session Agendas
Appendix B: Commissioned Paper
Appendix C: Selected Resources
Appendix D: Biographical Sketches of Committee Members