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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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Urea Cycle Disorder

Urea Cycle Disorder Overview The urea cycle is a filtering process to remove toxic substances from your body and keep other substances that are good for you moving throughout your body. Urea (carbamide) is a substance made by your liver. The urea cycle begins when you eat. Your body breaks down (metabolizes) protein that comes from food in your diet and turns it into amino acids, which are the building blocks of proteins. Amino acids help your body build muscle, transport nutrients and keep your organs functioning. Digestion of proteins leads to waste products that turn into ammonia. Ammonia is toxic to your body. To remove ammonia, enzymes, which are proteins that produce chemical reactions, convert ammonia into urea. The following amino acids are in urea, along with ammonia: Arginine. Ornithine. Citrulline. Enzymes move urea through your blood and kidneys. The final step of the urea process is to pass (excrete) urea from your body in your pee (urine). What are the types of urea cycle...
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HPV infection

HPV infection Overview HPV infection is a viral infection. There are more than 100 types of human papillomavirus (HPV). Some types of HPV infection cause skin growths called warts and some types of HPV infection can cause cancer. Most HPV infections don't lead to cancer. But some types of genital HPV can cause cancer of the lower part of the uterus that connects to the vagina, called the cervix. Other types of cancers have been linked to HPV infection. These include cancers of the anus, penis, vagina, vulva and back of the throat. Cancer at the back of the throat is called oropharyngeal cancer. These infections are often passed through sex or through other skin-to-skin contact. Vaccines can help protect against the strains of HPV most likely to cause genital warts or cervical cancer. Symptoms Usually, the body's immune system defeats an HPV infection before it creates warts. Different types of HPV produce different warts, including: Genital warts. Some appear flat. Others look...
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Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy Overview Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. Symptoms of Ullrich congenital muscular dystrophy The first signs of UCMD may be seen at birth or are usually evident within the first year of life. These include poor head control and delays in reaching motor milestones such as sitting unaided, crawling, or walking. Failure to gain weight and grow at the expected rate are also often early symptoms. The severity of symptoms at onset and progression varies amongst those affected and depends on the specific change in the COL6 genes. Initial symptoms could be subtle and go unnoticed, and the diagnosis may not be made until infancy or childhood. Muscle weakness Muscle weakness is often noticeable soon after birth. Various muscle groups are affected, including the...
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