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Trisomy 18

Trisomy 18 Overview Trisomy 18 is a serious genetic condition. It is also sometimes called Edward syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 18 will have the same differences or challenges. Some common things that can be caused by trisomy 18 include: Heart problems Kidney problems Clenched hands Slow growth during pregnancy Cleft lip and / or palate Trisomy 18 also causes challenges after birth, such as: Breathing problems Severe intellectual disability Feeding problems Seizures Hearing problems Who does Edwards syndrome (trisomy 18) affect? Edwards syndrome (trisomy 18) can affect anyone. The condition occurs when a person has an extra copy of chromosome 18, which is random and unpredictable. The likelihood that a parent will have a child with Edwards syndrome (trisomy 18) increases with maternal age at the time of pregnancy. If a parent had a child with Edwards syndrome (trisomy 18) and becomes pregnant again, it’s un...
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Havana Syndrome

Havana Syndrome Overview Havana Syndrome, or Anomalous Health Incidents (AHIs), refers to a set of unexplained, often chronic symptoms—including headaches, tinnitus, dizziness, vertigo, and cognitive dysfunction—first reported by U.S. and Canadian diplomats in Havana, Cuba, in 2016. Often starting with a localized, intense sound, these cases have been reported globally. The cause is heavily debated, ranging from hypotheses of directed-energy weapons (like microwaves) to theories of mass psychogenic illness or environmental factors Symptoms Sensory and Auditory Issues: Intense ear pressure, ringing in the ears (tinnitus), hearing loss, and sensitivity to sound. Neurological/Physical Symptoms: Severe headaches, dizziness, nausea, vertigo, and unsteadiness. Cognitive Issues: Memory loss, poor concentration, and confusion. Visual Disturbance: Blurred vision, diplopia, and light sensitivity. Onset: Symptoms often began suddenly, sometimes at night, and were associated with specific, di...
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Chronic Migraine

Chronic Migraine Overview Chronic migraine is a condition where you have frequent or long-lasting episodes of headaches and migraines. With chronic migraine, your symptoms can shift daily (or even hour to hour). That can make it hard to tell where one migraine or headache ends and another begins. Symptoms Chronic migraine symptoms are the same as those of episodic migraines. Chronic migraines simply last longer or happen more often. Chronic migraine also involves headaches. To receive this diagnosis, you must have: At least 15 days in a month where you experience a headache or migraine. This must happen for at least three months. At least eight days per month where your headaches include migraine symptoms or features. This must happen for at least three months. Migraines symptoms As mentioned, migraines aren’t the same as headaches, and they can take different forms. The symptoms you experience from migraine to migraine can also vary. Migraines happen in up to four stages (but not ever...
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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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