U.S. flag

An official website of the United States government


Send to:

Choose Destination

Broad uvula

MedGen UID:
Concept ID:
Synonym: Wide uvula
HPO: HP:0010809


Increased width of the uvula (subjective finding). [from HPO]

Term Hierarchy

Conditions with this feature

Loeys-Dietz syndrome 4
MedGen UID:
Concept ID:
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
VISS syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).

Recent clinical studies


Neagoş A, Muhlfay G, Zetu I
Rev Med Chir Soc Med Nat Iasi 2010 Jul-Sep;114(3):784-7. PMID: 21235121


Kratunova E, Zhang IL, da Fonseca MA
J Clin Pediatr Dent 2021 Jul 1;45(3):193-198. doi: 10.17796/1053-4625-45.3.8. PMID: 34192753
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B
Hum Mutat 2018 May;39(5):621-634. Epub 2018 Mar 6 doi: 10.1002/humu.23407. PMID: 29392890Free PMC Article
Neagoş A, Muhlfay G, Zetu I
Rev Med Chir Soc Med Nat Iasi 2010 Jul-Sep;114(3):784-7. PMID: 21235121

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...