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VATER Syndrome

VATER Syndrome Overview VATER syndrome (VACTERL association) is a group of growth abnormalities (birth defects) that happen in the early stages of embryo development during pregnancy. The term VATER is an acronym that identifies parts of the body that didn’t form properly during fetal development. Each case of VATER syndrome is unique. A diagnosis occurs if your child has at least three parts of their body affected by symptoms. What does the acronym VATER/VACTERL stand for? The acronym VATER stands for parts of the body affected by symptoms including: Vertebrae. Anus. Trachea. Esophagus. Renal (kidney). A redefinition of VATER syndrome changed the acronym to VACTERL to highlight other parts of the body affected by this condition including: Cardiac (heart). Limbs and radius. Symptoms Symptoms of VATER syndrome affect different parts of the body (anatomical structure) that can be present at birth (congenital) or appear later in life. Symptoms are unique to each person diagnosed with the ...
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Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome Overview Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders that mainly affect your body's connective tissues, such as ligaments, tendons, and cartilage. There are 13 types of this condition, with vascular EDS being type IV. While extremely rare, it’s also especially severe. People with this subtype of EDS have very fragile arteries and internal organs Symptoms The most common symptoms of vascular Ehlers-Danlos syndrome include: Skin differences. People with this condition have thinner, translucent and delicate skin (making veins very visible). Certain areas of skin will also age faster than others, especially skin on your hands and feet. Distinctive facial features . People with this condition usually have unusually thin lips and nose, a small chin and eyes that are large and far apart. They may have very small or no eyebrows. They also are more likely to have very small earlobes or no earlobes at all, and their ears will stick out ...
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Hypersensitivity (Allergic) Vasculitis

Hypersensitivity (Allergic) Vasculitis Overview Vasculitis is inflammation of blood vessels. It can damage blood vessels by thickening, scarring, and weakening the vessel walls. There are many different types of vasculitis. Some are acute and last a short time, while others can be chronic. Hypersensitivity vasculitis is also known as leukocytoclastic vasculitis. It is typically an acute condition that causes inflammation of small blood vessels. It’s marked by inflammation and redness of the skin that occurs when you come in contact with a reactive substance. About 10 percent of cases of hypersensitivity vasculitis go on to become chronic or reoccurring. The condition involves the appearance of red spots on the skin, most commonly, palpable purpura. Palpable purpura are raised spots that are often red but may darken to a purple color. However, many other types of rashes can also occur. Conditions that can cause this skin inflammation include: medications infections cancer any substance ...
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Van der Woude Syndrome

Van der Woude Syndrome Overview Van der Woude (van-der-WOOD-ee) syndrome is a rare inherited disorder that affects how a child’s mouth forms in the womb. Children with this condition have sunken or raised pits in their lower lip called lip pits. They may also have an opening in their lip called a cleft lip, or one in the roof of the mouth called a cleft palate — or both. Some of a child’s teeth might not develop. Healthcare providers sometimes call the condition “lip pit syndrome.” French physician J. Demarquay first described the condition in 1845. It gets its name from Dr. Anne Van der Woude who conducted comprehensive studies about the condition in the early 1950s. What are a cleft lip and cleft palate? A cleft lip and palate refers to an opening, or cleft, in the lip and roof of the mouth (palate). It’s a type of birth defect that occurs while a baby develops in the womb. A child may have either a cleft lip or a cleft palate or they may have both conditions. Cleft lip: The two sid...
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Uveal melanoma

Uveal melanoma Overview Uveal melanoma is the most common primary intraocular cancer in adults, originating in the eye's middle layer (iris, ciliary body, or choroid). It is a rare, aggressive tumor often diagnosed in the 6th decade, commonly causing flashes, floaters, or vision loss. Key treatments include radiation (brachytherapy, proton beam) or enucleation, with a high risk of metastasis, primarily to the liver.  Symptoms Vision Changes: Blurry or distorted vision in one eye is a common symptom. Visual Disturbances : Seeing flashes of light (photopsias) or an increase in small, moving spots (floaters). Dark Spot on the Iris : A noticeable, growing dark spot on the colored part of the eye. Pupil Changes: A change in the size or shape of the pupil. Vision Loss: A loss of peripheral (side) vision. Physical Eye Changes : A bulging or protruding eye. Pain/Redness: While often painless, some cases may involve eye pain or redness, or secondary conditions like glaucoma. Causes Genet...
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Usher Syndrome

  Usher Syndrome Overview Usher syndrome is a rare inherited disorder that causes vision loss, hearing loss and, sometimes, balance issues. It happens because mutations (changes) in specific genes disrupt how hearing and vision develop during fetal development. Usher syndrome symptoms are often congenital (present at birth) or develop during childhood. Rarely, people with this condition develop symptoms as adults. There’s no cure for Usher syndrome, but there are many ways to manage its symptoms. Types of Usher syndrome There are 10 known mutations that lead to this disorder, and syndrome types vary depending on the different combinations of genetic mutations. But all types of Usher syndrome cause issues with hearing, vision and balance. The differences are when symptoms start and how severe those symptoms are. The three types of Usher syndrome are: Type 1: In this type, hearing loss and balance issues are present at birth. If your baby has this type of Usher syndrome, they have se...
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Urticarial Vasculitis

Urticarial Vasculitis Overview Urticarial vasculitis is a rare form of vasculitis that causes itchy, painful hives on your skin. Vasculitis is any inflammation (swelling) that affects your blood vessels. Blood vessels are channels that carry blood throughout your body. They form a circuit that begins and ends at your heart. If you have vasculitis, your blood vessels swell and stretch. This makes it harder for blood to flow through them. Urticaria is the medical term for hives. Hives are raised red or discolored bumps (welts) on your skin. A healthcare provider might refer to hives as skin lesions. Urticarial vasculitis usually affects your skin, but it can also affect blood vessels connected to other areas of your body, including your: Joints. Heart. Kidneys. Eyes. Lungs. Depending on which symptoms you’re experiencing — and how severe they are — most people with urticarial vasculitis can manage their symptoms with medication. Visit a healthcare provider if you have hives on your skin ...
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