Chiari I Malformations and the Heritable Disorders of Connective Tissue

Meghan Ellington; Clair A Francomano

doi:10.1016/j.nec.2022.09.001

Chiari I Malformations and the Heritable Disorders of Connective Tissue

Neurosurg Clin N Am. 2023 Jan;34(1):61-65. doi: 10.1016/j.nec.2022.09.001.

Authors

Meghan Ellington¹, Clair A Francomano²

Affiliations

¹ Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, IB 130, Indianapolis, IN 46202, USA.
² Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, IB 130, Indianapolis, IN 46202, USA. Electronic address: cfrancom@iu.edu.

PMID: 36424065
DOI: 10.1016/j.nec.2022.09.001

Abstract

The heritable disorders of connective tissue (HDCTs) are a heterogeneous group of inherited disorders caused by pathogenic variants in genes encoding a wide range of molecules involved in the structure and function of the extracellular matrix. Currently, more than 450 HDCTs are recognized. These include the Ehlers-Danlos syndrome (EDS), Marfan syndrome, Loeys-Dietz syndrome (LDS), Stickler syndrome, and a wide range of skeletal dysplasias. Recent evidence suggests that people with the HDCTs are at an increased risk of Chiari I malformation (CM1).

Keywords: Chiari I malformation; Complex Chiari; Ehlers-Danlos syndrome; Heritable disorders of connective tissue; Marfan syndrome.

Publication types

Review

MeSH terms

Arthritis*
Connective Tissue
Connective Tissue Diseases* / genetics
Humans
Loeys-Dietz Syndrome* / genetics
Retinal Detachment*