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Trisomy 13 (Patau Syndrome)

Trisomy 13 (Patau Syndrome) Overview Trisomy 13 (Patau syndrome) is a rare genetic condition that occurs when the 13th chromosome appears three times (trisomy) instead of two times in a person’s DNA. Trisomy 13 affects the development of the face, brain and heart, along with physical growth abnormalities throughout a child’s body. Symptoms of trisomy 13 can be life-threatening and the condition poses a risk of miscarriage or death before the child turns 1 year old. Who does trisomy 13 (Patau syndrome) affect? Trisomy 13 can affect anyone because it’s the result of a copying error during fetal development where an extra chromosome joins a pair. The rate of occurrence is higher among children born to parents who are older than 35 years. To understand your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing. How common is trisomy 13 (Patau syndrome)? Trisomy 13 occurs in an estimated 1 out of 10,000 to 20,000 live births. The mortality r...
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Triple X syndrome

Triple X syndrome Overview Triple X syndrome, also called trisomy X or 47,XXX, is a genetic disorder that affects about 1 in 1,000 females. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes. Many girls and women with triple X syndrome don't experience symptoms or have only mild symptoms. In others, symptoms may be more apparent — possibly including developmental delays and learning disabilities. Seizures and kidney problems occur in a small number of girls and women with triple X syndrome. Treatment for triple X syndrome depends on which symptoms, if any, are present and their severity. Symptoms Signs and symptoms can vary greatly among girls and women with triple X syndrome. Many experience no noticeable effects or have only mild symptoms. Being taller than average height is the most typical physical feature. Most females with triple X syndrome experience normal sexual development and ha...
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Thrombocytopenia-absent radius (TAR) syndrome

Thrombocytopenia-absent radius (TAR) syndrome Overview Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder characterized by the congenital absence of the radius bone in both forearms (with thumbs present) and low platelet count (thrombocytopenia), causing bleeding risks. It is an autosomal recessive condition, often involving mutations in the RBM8A gene. While the first year of life presents the highest risk for severe hemorrhage, prognosis improves as platelet counts often normalize over time.  Symptoms Hematologic (Blood): Thrombocytopenia, causing low platelet counts, usually appears at birth or within the first few weeks/months of life. It causes petechiae (tiny purple spots), bruising, and potential hemorrhage. This often improves after the first year. Skeletal (Limbs) : Bilateral absence of the radius (the forearm bone on the thumb side) is a defining feature, resulting in short, malformed forearms. Unlike similar conditions, thumbs are present. Associat...
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Treacher Collins Syndrome

Treacher Collins Syndrome Overview Treacher Collins syndrome is an extremely rare inherited group of conditions that affect the size, shape and position of your child’s ears, eyes, cheekbones and jaws. The syndrome can cause one or more conditions that affect your child’s ability to nurse or bottle-feed, breathe easily or hear. Another name for Treacher Collins syndrome is mandibulofacial dysostosis. Your child’s symptoms can range from mild and almost unnoticeable to very severe. Most children who have Treacher Collins syndrome have surgery to correct facial differences like cleft palate. Some may need treatment for hearing loss, as well. With treatment and routine healthcare follow-ups, children with Treacher Collins syndrome can live long, healthy lives. Early intervention is key, though. Without treatment, children with Treacher Collins syndrome may develop complications that require lifelong medical care. Treacher Collins syndrome affects approximately 1 in every 50,000 children w...
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Sleep Paralysis

Sleep Paralysis Overview Sleep paralysis is when you can’t move any part of your body right before falling asleep or as you wake up. It happens when your body is in between stages of sleep and wakefulness. An episode is temporary and only lasts for a few seconds to a couple of minutes. It’s a type of parasomnia. You’ll likely feel scared or anxious during a sleep paralysis episode. When it ends, you may feel confused because you’ll regain movement of your body as if nothing happened. Even one sleep paralysis episode can make you nervous about going to sleep. This can affect how you feel and function during the daytime. There’s no treatment available to stop a sleep paralysis episode when you’re in the middle of one, but treatment is available to reduce how often episodes affect you. Symptoms You may experience the following symptoms during a sleep paralysis episode either right before falling asleep or as you’re waking up: You can’t move your arms or legs. You can’t speak. Sensations o...
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Tay-Sachs Disease

Tay-Sachs Disease Overview Tay-Sachs disease is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord. Symptoms like developmental delays, hearing and vision loss usually begin around 6 months of age. It’s a progressive disease, meaning it gets worse over time. It leads to early death. There’s no cure, but treatment supports your child and keeps them comfortable. What are the types of Tay-Sachs disease? There are three types of Tay-Sachs disease. The type depends on when symptoms develop: Classic infantile: This is the most common form of Tay-Sachs disease. Children develop symptoms around 6 months of age. Juvenile: Children develop symptoms between the age of 5 and their teenage years. This form is very rare. Late-onset: Symptoms can appear during the late teen years or early adulthood. They can also develop after a person reaches 30 years old. This type may not affect your life expectancy. It’s also very ra...
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Orchiopexy

Orchiopexy is surgery to treat undescended testicles. A surgeon performs it when your baby is between six and 24 months old if their testicles haven’t moved into their scrotum yet. It also treats testicular torsion (where your testicle twists and cuts off the blood supply). Overview What is an orchiopexy? An orchiopexy (OR-kee-oh-peck-see) is surgery to move undescended testicles or to treat testicular torsion. To treat undescended testicles, a surgeon moves them from inside your child’s belly (abdomen) or groin area and attaches them inside the scrotum (the pouch of skin below your penis). To fix testicular torsion, your provider will untwist your testicle and secure it to the inside of your scrotum. The surgeon may also need to repair hernias or put in an artificial testicle (testicular prosthesis) during surgery. Other names for an orchiopexy are orchidopexy (OR-keh-doh-peck-see) and undescended testicle repair surgery. What conditions does an orchiopexy treat? An orchiopexy correct...
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