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Hypersomnia

Hypersomnia What is hypersomnia? Hypersomnia is any condition that makes you feel extremely sleepy during the day. This happens even though you get a healthy amount of sleep (or more than enough). Everyone wishes they could take a midday nap once in a while. But hypersomnia is more serious. It’s more than feeling drained after a long meeting or double-block class period. If you have hypersomnia, you can’t control when you feel sleepy. You may fall asleep several times during the day, usually without meaning to. Hypersomnia can affect your ability to go to school or work. It can make it hard to maintain relationships with loved ones. You’ll also have a higher risk of accidents and injuries. Talk to a healthcare provider if you feel tired all the time or feel like you can’t control when you fall asleep. Symptoms Symptoms of hypersomnia can include: Anxiety, irritability Constant or repeated episodes of extreme sleepiness during the day Decreased energy Difficulty waking up in the morning...
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Velocardiofacial Syndrome

Velocardiofacial Syndrome  Overview Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome. The name Velocardiofacial syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart, and “facies” having to do with the face. VCFS includes many common features: cleft palate, heart defects, and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems. Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that one in 2,000 to 5,000 children per year are born with Velocardiofacial syndrome, and more than 130,000 individuals in the United States have this syndrome. Since the initial description of this syndrome, many other parts of the body have been reported to be involved. Many of the affected body systems are: Immune system...
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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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