Table 2.

TNXB-Related Classical-Like Ehlers-Danlos Syndrome: Frequency of Select Features

Feature% of Persons
w/Feature 1		Comment
Hyperextensible skin100%
Joint hypermobility100%W/or w/o recurrent joint (sub)luxations
Easy bruising91%
  • Likely 100%, as not all reports commented on this feature
  • Also incl hematomas/ecchymoses
Foot abnormalities (≥1) 281%
  • Most specific: broad foot w/brachydactyly
  • Most common: pes planus
Complaints of fatigue53%
Subjective muscle weakness37%
Vascular fragility27%3/56 persons (5%) experienced major medical events due to vascular fragility.
Edema in legs in absence of cardiac failure25%
Vaginal/uterus/rectal prolapse21%
Hand anomalies20%Only brachydactyly was considered.
Gastrointestinal fragility16%Incl esophageal, small bowel, &/or large bowel ruptures
Axonal polyneuropathy14%Feature was not investigated in the Green et al [2020] cohort of 20 persons.
Other fragility4%
  • Trachea rupture after intubation
  • Defect of nasal cartilages after nose blowing
Atrophy of muscles in hands & feet4%Feature was not investigated in the Green et al [2020] cohort of 20 persons.
1.

Not all reports commented on all the clinical features mentioned above. When not commented on, the feature was considered absent.

2.

Including broad/plump forefoot, brachydactyly with excessive skin, pes planus, hallux valgus, and painful soles of the feet

From: TNXB-Related Classical-Like Ehlers-Danlos Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.