Veds Facial Features. Vascular Ehlers-Danlos syndrome (VEDS) is one of the different s

Vascular Ehlers-Danlos syndrome (VEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). Spontaneous rupture of arteries, intestines, or uterus can occur, requiring immediate care. Vascular Ehlers Danlos syndrome, or VEDS, is caused by changes in the gene called COL3A1 that tells the body how to make collagen III. Please note that vEDS affects each person differently. One feature seen across all types of EDS is skin hyperextensibility, which means the skin can stretch beyond the normal range. Spectrum of vEDS facial features compared with unaffected controls. The complications of vEDS can be life-threatening and include aneurysm, dissection, and rupture of the arteries and rupture of organs. vEDS causes symptoms that can affect daily life. Recognizing the traits and signs of vEDS is crucial for early diagnosis, management, and prevention of potentially life-threatening complications. Jan 24, 2025 · More than half of children with vascular Ehlers-Danlos syndrome (vEDS) were diagnosed as part of familial genetic testing, per a study. . Pediatric Grand Rounds, Morristown Hospital, NJ, April 21, 2022, virtual, with Dr. (i. Rare Disease 360, in partnership with The Marfan Foundation, spoke with Hal Dietz, MD, a cardiologist and geneticist at Johns Hopkins University, about the importance of educating primary care physicians and emergency department physicians on the signs and symptoms of VEDS. When facial features are present, they may include: thin lips, small chin, thin nose, large or deep-set eyes. Hii there, People with vEDS may have thin, translucent skin, easy bruising, characteristic facial features, and a high risk of life-threatening complications at a young age. Local Interpretable Model-agnostic Explanations highlighted facial regions already established to characterize the facial features of vEDS patients (eg, prominent eyes). Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique Dec 11, 2018 · Characteristic facial features (thin lips, narrow nose, undersized jaw, protruding eyes) Easy bruising Thin skin with visible veins (especially on the chest or abdomen) Rupture or tearing of the arteries, intestines or uterus Family history of vEDS Other less obvious symptoms that may also help raise suspicion of vEDS include: Oct 3, 2024 · After learning much more about VEDS following her child’s passing, Jenny said there were a few small signs of VEDS present: some typical VEDS facial features, gastrointestinal issues and, most noticeable in Natalie’s youngest years, easy bruising. e. In rare cases, vascular EDS can cause dissection, or tearing, of the layers that form the carotid artery, leading to Oct 19, 2020 · Megan was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS) in 2018. Learn more! Sack–Barabas syndrome (SBS) is an older name for vascular Ehlers–Danlos syndrome (vEDS). Why Accurate Diagnosis of vEDS Matters Overlapping features with other syndromes Knowing the diagnosis improves outcomes Knowing the diagnosis improves outcomes: Aggressive risk factor modification: Smoking cessation Exercise recommendations No remarkable findings in terms of vEDS facial features (A), no permeability of subcutaneous blood vessels (B), and no skin hyperextension (C) were observed. I figured it has been a good while since I have done this, so here it is! Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous We would like to show you a description here but the site won’t allow us. Two years later, she shares her experience coming to terms with a VEDS diagnosis. Jan 12, 2026 · Early warning signs of vEDS include thin, translucent skin with visible blood vessels, excessive bruising from minor trauma, poor wound healing, and characteristic facial features such as a thin nose and large eyes. In late childhood, some of the facial features of VEDS become more apparent, bruising may increase because of activity, spontaneous pneumothorax (lung collapse) may occur, and colonic ruptures sometimes occur, usually in the sigmoid colon. As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). g. From the soft curves of the facial features to the structured folds of the clothing, every element is meticulously rendered, offering a glimpse into the artist’s keen eye for detail. If there are other signs of vEDS (facial features, bruising, sleeping with eyelids partially open, etc. Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Apr 10, 2022 · Vascular Ehlers-Danlos syndrome is a genetic disorder that can cause severe bleeding and internal injuries. 97. Thin nose pinched at the bridge and the tip, thin upper lip, pinched in lower half of face with small jaw, almond eyes appearing bulged or deep set, small or lobeless ears) Dec 1, 2014 · As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). The facial features associated with vEDS, such as prominent eyes and a thin nose, are diagnostic markers. Here, we describe the treatment of vEDS lacking the characteristic facial attributes in a 24-year-old healthy man who presented to the emergency room with abdominal pain. Joint hypermobility is not as common of a feature in vEDS as in other forms of EDS. 11 mos Jill Beach Angharad Ffion mine started out when I was just a child . , prominent eyes). Vascular EDS (vEDS) is a rare type of EDS. Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited, genetic connective tissue disorder. As a result, when the classical facial features are absent as in the majority of cases. Vascular EDS is a life-threatening disorder associated with fragility of blood vessel and hollow organs. Ehlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Variation in these features can occur due to factors like age, disease severity, and specific genetic mutations, aiding healthcare providers in forming accurate diagnoses and management plans. This can include low impact exercise, physiotherapy, psychological support for chronic fatigue and pain management, pain medication tailored to symptoms, and appropriate therapy for any associated stomach or bowel problems. hypermobile fingers and toes, unusual facial features (such as a thin nose and lips, large eyes and small earlobes), varicose veins and delayed wound healing. October is VEDS Action Month! Join The VEDS Movement—share your story, rock awareness apparel, and access life-saving resources for Vascular Ehlers-Danlos syndrome. Oct 11, 2025 · In late childhood, some of the facial features of VEDS become more apparent, bruising may increase because of activity, spontaneous pneumothorax (lung collapse) may occur, and colonic ruptures sometimes occur, usually in the sigmoid colon. Vascular dissection or rupture, gastrointestinal perforation, or organ Management for hEDS is generally designed to alleviate symptoms and should be through referral to relevant medical specialists and allied health professionals. Diagnosis of Vascular Ehlers-Danlos syndrome (VEDS) is based on careful assessment of medical and family history, physical examination, and genetic testing. Guidelines The Vascular Ehlers-Danlos Syndrome (vEDS) pipeline report provides detailed information of the Vascular Ehlers-Danlos Syndrome (vEDS) pipeline products from the initial phase of product development until its commercialisation in the Vascular Ehlers-Danlos Syndrome (vEDS) market. They highlight the fact that the severity of your underlying vEDS does not always correlate with your facial features. Joint contractures caused by shortening of the ligaments. Question: October is Vascular Ehlers-Danlos Syndrome Jul 16, 2025 · A clinical overview of the connective tissue disorder, Ehlers-Danlos syndrome (vascular, Type 4; EDS4); with illustrations, references, and symptoms. #REDS4VEDS 347 81 161 Like Comment Children with vascular Ehlers-Danlos syndrome can have mild or severe signs and may have characteristic facial features such as a small chin, thin nose and lips, and deep-set, large eyes. The use of graphite enhances the statue-like quality of the subject, giving it a polished, almost marble-like finish. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Features of vEDS are severe bruising, thin translucent skin, and characteristic facial appearance (taut and hollow cheeks, thin lips and nose, and prominent eyes). When Sarah Lazarus’ daughter was diagnosed with it, she discovered that the majority of cases are going undiagnosed for decades. Someone asked me to do a video with my VEDS symptoms and diagnosis story. Vascular Ehlers-Danlos Syndrome (vEDS) and Marfan Syndrome each exhibit unique facial profiles—vEDS with prominent eyes, translucent skin, and fragile facial features, and Marfan Syndrome with a long, narrow head, down-slanting eyes, and underdeveloped cheekbones. Partial collapse of the lung called a pneumothorax. One of the hallmark features of vEDS is the tendency for arteries, veins, and organs to rupture or tear unexpectedly. Learn about Vascular Ehlers-Danlos Syndrome (VEDS), how it affects the body and who is affected from The VEDS Movement, a division of The Marfan Foundation. Jul 25, 2016 · Joint hypermobility and skin hyperelasticity are unusual features in vascular Ehlers-Danlos syndrome (vEDS). fingers and toes). In late childhood, some of the facial features of VEDS become more apparent, bruising may increase because of activity, spontaneous pneumothorax (lung collapse) may develop, and colonic ruptures begin to be seen, usually in the sigmoid colon. May 25, 2019 · #vEDS caused yours? I think I may have this type as I am having odd circulation issues, match the characteristics in that poster etc. Mar 29, 2023 · The certainty diagnosis of vEDS is determined either by identification of a heterozygous pathogenic variant in COL3A1 on molecular genetic testing, by abnormalities in synthesis and mobility of type III collagen chains on biochemical analysis of type III procollagen from cultured fibroblasts, or even by histopathological examination People with vEDS have thin, translucent skin that shows underlying veins. Mild small joint hypermobility (D) and acrogeria were observed (E). They also bruise easily and have distinct facial features like a thin nose and lips. The characteristic facial features associated with EDS may include: These images show the spectrum of facial features which can be seen in vEDS. Every person with EDS is different. It is inherited in an autosomal dominant way which means that if a person has vEDS there is a 50% […] Because both complications are associated with a reduced life expectancy for individuals with this condition, an awareness of the clinical features of vEDS is important. Ab-normal scar formation after trauma or surgery is often present. They may also have distinctive facial contours, including thin lips, a small chin, prominent eyes, and a pinched nose, contributing to a unique facial structure. Vascular Ehlers-Danlos syndrome (VEDS) is a genetic condition that is caused by a change (mutation) in the gene for collagen type 3 (the COL3A1 gene). Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major fi images and distinguished vEDS from both controls and individuals with hEDS with high ac-curacy, achieving an area under the receiver operating characteristic curve 0. Anjali Chelliah, Heidi Green, and Katie Wright, Directo Dec 16, 2016 · Classic Ehlers-Danlos Syndrome (cEDS) Vascular Ehlers-Danlos Syndrome (vEDS) Classical-like EDS (clEDS) Cardiac-valvular EDS (aEDS) Arthrochalasia EDS (aEDS) Dermatosparaxis EDS (dEDS) Kyphoscoliotic EDS (kEDS) Brittle Cornea Syndrome (BCS) Spondylodysplastic EDS (spEDS) Musculocontractural EDS (mcEDS) Myopathic EDS (mEDS Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. Acrogeria: Prematurely aged appearance of the skin on the hands and feet. Spectrum of facial features in individuals with vascular Ehlers-Danlos syndrome (vEDS) shows variability among patients and does not necessarily correlate with the severity of the underlying We would like to show you a description here but the site won’t allow us. People with VEDS often have a very vis-ible venous patterning and a character-istic facial appearance: large eyes that may be prominent or sunken, thin/nar-row nose, thin lips, and a small chin. Easy Bruising: Severe and spontaneous bruising, often without significant trauma. This method democratizes the early diagnosis of vEDS by reducing dependence on genetic testing, enabling optimal management and improved outcomes, particularly in resource-limited areas. My kid's other parent was misdiagnosed for 2 years with hEDS, and geneticists often funny don't recognize the VEDS facial features even though my family had them very obviously. There are 13 different types of EDS, but they do have some clinical features in common. May 9, 2025 · Our results demonstrate the potential of AI-based facial analysis for diagnosing vEDS. Oct 22, 2024 · LIME highlighted facial regions already established to characterize the facial features of vEDS patients (e. Prominent varicose veins in young in-dividuals are also common features. Individuals with vEDS are shown in (A-D) alongside age-, sex-, and ethnicity-matched unaffected individuals in (E-H). Learn More. Jun 22, 2023 · Facial features typical for EDS included epicanthal folds (upper eyelid skin fold), drooping eyelids, prominent eyes, eyes that are closer together than typical, low-set ears, and elongation in the area between nose and mouth. Jul 23, 2025 · Individuals with VEDS often present with observable external signs, particularly in their facial appearance. vEDS may remain undiagnosed in those with de novo mutations until catastrophic acute presentation. Gingival recession is the only oral sign We would like to show you a description here but the site won’t allow us. Vascular Ehlers-Danlos syndrome (VEDS) is a genetic condition that makes the arteries and hollow organs prone to tear, due to a mutation in the COL3A1 gene. uk 2019) The diagnostic criteria for vascular EDS: Major criteria are: Family history of vEDS with documented causative variant in COL3A1; Arterial rupture at a young age; This vein pattern is often seen with vEDS, there can be some children who have this initially and then out grow it as they get bigger. Sep 19, 2020 · This video is about my Vascular Ehlers-Danlos Syndrome (VEDS) characteristics and my diagnosis story. People who suffer from Vascular EDS are characterized by thin, translucent skin, frequent bruising, and usually have a typical facial appearance. How is vEDS Diagnosed? Genetic Testing for vEDS Apr 10, 2025 · Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. The symptoms listed here may not affect everyone with vEDS, and people with vEDS may have other symptoms that are not listed on this page. Hair loss, particularly notable in women may also be present. Some features, like translucent skin, may be harder to see on brown or black skin. Because both complications are associated with a reduced life expectancy for individuals with this condition, an awareness of the clinical features of vEDS is important. Individuals with pEDS share facial features of that are more often seen in individuals with vascular EDS including prominent eyes, narrow nose and thin vermillion of the lips seen in individual P8 October is Vascular Ehlers-Danlos Syndrome (VEDS) Action Month. Sep 11, 2025 · People with vEDS may have unusual facial features, such as hollow cheeks, and prominent eyes, due to less fat beneath the skin. May 8, 2023 · The chin may also match the slender facial features, making the appearance of the eyes all the more prominent. Find out about the symptoms, causes and treatments. It is a medical condition, a subset of Ehlers–Danlos syndrome which especially affects the body's vascular system, including blood vessels and organs, and makes them prone to rupture. RESULTS: The AI classifier showed excellent performance with as few as 13 vEDS training images and distinguished vEDS from both controls and individuals with hEDS with high accuracy, achieving an area under the receiver operating characteristic curve ≥ 0. In Oct 31, 2019 · Clinical Features and Diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS) - Part 1 by Dr. Dec 24, 2022 · Hypermobile Ehlers-Danlos syndrome is a connective tissue disorder. Dec 27, 2024 · Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Skin can appear translucent with veins easily visible. Hypermobile EDS currently has no identified genetic cause. We would like to show you a description here but the site won’t allow us. In late childhood, some of the facial features of vEDS become more apparent, bruising may increase because of activity, spontaneous pneumothorax (lung collapse) may develop, and colonic ruptures begin to be seen, usually in the sigmoid colon. However, vEDs does not typically display hypermobility of the large joints and skin hyperextensibil … Jan 1, 2025 · Figure 1. Common features include large, prominent eyes, a small chin, sunken cheeks, and a thin nose with thin lips. Local Interpretable Model-agnostic Explanations highlighted facial regions already established to characterize the facial features of Characteristic facial features are prominent eyes, thin lips, sunken cheeks and a pinched nose. Nov 18, 2022 · No remarkable findings in terms of vEDS facial features (A), no permeability of subcutaneous blood vessels (B), and no skin hyperextension (C) were observed. The disease can largely be episodic, revealing itself in spontaneous arterial dissections or organ ruptures, making it especially dangerous. ) they should … Some people have characteristic facial features, thin skin, and tissue fragility Sadly, the average life expectancy for those who suffer with vEDS is a short 48 years, though many experience life-threatening episodes long before this age. Difficulty of clinical diagnosis has led to the design of diagnostic criteria, summarised in the Villefranche classification. Clinical complications of vEDS typically start to occur in the late teenage years, more rarely during childhood, and may repeat at unpredictable time intervals through the entire adult life. These can include joint hypermobility, stretchy skin and tissue fragility. Explore the features of vEDS by selecting different body parts from the menu on the left. Consenting to these technologies will allow us to process data such as browsing behavior or unique IDs on this site. It’s usually manageable but not curable. (Ref: nhs. vEDS may also cause a variety of other symptoms, including extensive bruising and spontaneous pneumothorax. Individuals may also experience early-onset varicose veins, frequent nosebleeds, or bleeding that is difficult to control. Learn about treatment options available to help manage and improve quality of life. Individuals with VEDS present with symptoms like easy bruising, thin skin, distinguishable facial features, and hypermobile joints that may be prone to dislocation. The facial features that are talked about online are a bit vague so it’s hard for me to decide if I have any of the features. Premature ageing of the skin on hands and feet. There can be characteristic facial features including a ‘tight’ or ‘pinched’ appearance of the mid face, prominent eyes, and thinner lips. Hypermobility of small joints. vEDS is a genetic disorder that causes connective tissue to be fragile, particularly in the blood vessels and organs. I have very noticeable veins under my eyes that I’ve had pretty much my whole life, and generally just dark under eyes. This is a remake of an older video :) May 17, 2024 · While these are common facial features of people with #vEDS - Vascular Ehlers-Danlos Syndrome - not every person with vEDS has these. Problems, such as bleeding or receding gums. Some may also have small earlobes or ears that appear to stick out. May 13, 2024 · Distinctive facial features: People with VEDS may have characteristic facial features like thin, translucent skin that bruises easily, giving a prematurely aged appearance. To provide the best experiences, we use technologies like cookies to store and/or access device information. Mar 29, 2023 · We provide data on the clinical features of vEDS for 180 patients (full cohort) seen in our service with confirmed molecular diagnoses. Apr 17, 2025 · A vEDS facial phenotype which includes prominent eyes (due to lack of subcutaneous adipose tissue around the eyes), a thin, pinched nose and thin lips, and lobeless ears [22, 23, 28, 29], was Oct 27, 2024 · Characteristic facial features* *It was once thought that all individuals with vEDS shared distinct facial features, but newer studies suggest this is not necessarily the case. Not consenting or withdrawing consent, may adversely affect certain features and functions. Conclusion Our results demonstrate the potential of AI-based facial analysis for diagnosing vEDS. However, seeing these facial features should be an important clue to what may be going on, and cardiology should be consulted. (vEDS facial characteristics. Facial features, including a thin nose and lips, large eyes, small earlobes, and fine hair. Shaine Morris, Dr. Oct 6, 2025 · Characteristic Facial Features: Individuals may have a thin, pinched nose, thin lips, prominent eyes, and a lack of subcutaneous fat on the face, giving a “haunted” appearance. Signs of vascular Ehlers-Danlos syndrome Or, it can mean unexplained bruising where individuals with vEDS find bruises without an obvious cause. Vascular Ehlers-Danlos Syndrome (vEDS) is a heritable disorder of connective tissue caused by heterozygous pathogenic variants in COL3A1. VEDS is caused by mutations in the COL3A1 gene, affecting type III collagen. my shoulders would become dislocated everytime my mom tried to even take my mittens off or if she tried to pick me up with her hands under my armpits * she was constantly tsking me to Objective Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the COL3A1 gene, responsible of vascular, digestive and uterine accidents. Most of the rare monogenic EDS types can have neurological features, which are often part of major or As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears). vEDS is characterized by arterial, intestinal, and/or uterine fragility; easy bruising; thin, translucent skin; and characteristic physical features (prominent eyes, narrow nose, thin vermilion of lips, micrognathia, and an aged appearance of the extremities Feb 7, 2025 · -facial features - I know these are absent in folks with vEDS and can be present in folks without vEDS but if a few of them are present (attached ear lobes, big eyes with eyelids that don’t close completely during sleep, smaller lip and smaller nose) would those coupled with the veins be enough to raise concern in terms of the Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue. The vascular EDS (vEDS) facial phenotype includes a narrow nose, prominent eyes, micrognathia, and a thin vermilion of the lips. Some people have signs of Vascular Ehlers-Danlos syndrome, or VEDS, with a noticeable characteristic appearance, while others do not have any outward signs of the condition. Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. The goal was to assess oral features of vEDS. vEDS is particularly serious because of the risk for sp Dec 19, 2019 · People with vascular EDS usually have fragile and translucid skin that bruises easily, particular facial features (including prominent eyes, thin face and nose, and lobeless ears), and blood vessels that break easily. We follow patients with diagnoses of VEDS in our Connective Tissue Disorder Program here at Lurie Children’s.

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