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Paper Describes Incidence of Tethered Cord Syndrome among People with KBG Syndrome

BALTIMORE, Maryland, March 24, 2023 

Manchester, Md. – The American Journal of

Medical Genetics Part A has published the

original research article “Tethered Cord

Syndrome in KBG Syndrome,” an investigation

into the incidence rate of tethered cord

syndrome (TCS) among a cohort of KBG


Patricia Weltin and Annette Maughan, both

mothers of children with rare diseases, are

coauthors of the paper. Each has had to

become a strong advocate to ensure their children received the correct diagnosis.

“This started with a conversation with Patricia about some symptoms my son was experiencing,” said Maughan, who cofounded the KBG Foundation. She reached out to others within the Foundation’s private Facebook group and found out she wasn’t alone.

“Through more research and polling within the KBG Syndrome Families Group, we realized that tethered cord should be highly suspected when specific symptoms are present in the KBG syndrome-affected individual,” Maughan said.

Tethered cord occurs when the spinal cord fixes to surrounding spinal tissues and is associated with sensory and motor deficits, leg pain and weakness, bladder and bowel dysfunction, and scoliosis or other orthopedic malformations. It can be corrected with surgery. Weltin brought their findings to internationally renowned neurosurgeon Petra Klinge, neonatologist Pankaj Agrawal and others to compile and present the data. After peer review, the paper was published online and appears in the March print edition of the American Journal of Medical Genetics Part A. In addition to Klinge, Agrawal, and Weltin, co-authors are Maughan, Sonia Hills, Alisa Pugacheva, Sarah U. Morton and Henry A. Feldmen.

“This paper is possible because of the involved members in the KBG Syndrome Families Facebook group and the willingness of Dr. Klinge, Dr. Agrawal and the other coauthors to listen to the patient
community,” Maughan said. “By identifying this and alerting both patients and physicians, we may see earlier diagnoses of tethered cord, which can be treated with surgery and result in greatly improved quality of life.”

​Read the Abstract

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Patricia Weltin is the mother of two children living with Ehlers-Danlos Syndrome (EDS), a rarely-diagnosed, multi-systemic connective tissue disorder. In an effort to improve the quality of life of her daughters, Patricia began researching possible treatments for EDS and the underlying issues which contribute to its many comorbidities. Her work as CEO of Beyond the Diagnosis, a traveling art exhibit of rare disease children, led Patricia to make connections among many rare diseases, with a special interest in the prevalence of Tethered Spinal Cord in the rare population.

KBG syndrome is a rare genetic disorder caused by a mutation on the ANKRD11 gene and associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature.


The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG syndrome. For more information about the Seed Funding program and other initiatives or to donate, visit


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