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href=\"https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome\">Ankyrin-B syndrome</a></li><li><a href=\"https://medlineplus.gov/genetics/condition/timothy-syndrome\">Timothy syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the KCNQ1, KCNH2, and SCN5A genes are the most common causes of Romano-Ward syndrome. These genes provide instructions for making proteins that form channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle cells, these ion channels play critical roles in maintaining the heart&#x27;s normal rhythm. Mutations in any of these genes alter the structure or function of the channels, which changes the flow of ions in and out of cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.</p><p>Mutations in other genes involved in ion transport can also cause Romano-Ward syndrome; each of these additional genes is associated with a very small percentage of cases.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/romano-ward-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Romano-Ward syndrome?"},{"bodyHtml":"<p>The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.</p><p>Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/romano-ward-syndrome\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Jervell and Lange-Nielsen syndrome</summary><p>Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart&#x27;s normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.</p><h3>Causes</h3><p>Jervell and Lange-Nielsen syndrome is caused by mutations in the KCNE1 and KCNQ1 genes. These genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of inner ear structures and cardiac muscle.</p><p>About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene; KCNE1 mutations are responsible for the remaining cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome\">MedlinePlus: Jervell and Lange-Nielsen syndrome</a></p></details><details class=\"deep-dive\"><summary>Andersen-Tawil syndrome</summary><p>Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.</p><p>In people with Andersen-Tawil syndrome, the most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart&#x27;s lower chambers (the ventricles), and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to discomfort, such as the feeling that the heart is skipping beats (palpitations). Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death.</p><p>Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities (such as crowded teeth), low-set ears, widely spaced eyes, fusion (syndactyly) of the second and third toes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal side-to-side curvature of the spine (scoliosis).</p><p>The signs and symptoms of Andersen-Tawil syndrome vary widely, and they can be different even among affected members of the same family. About 60 percent of affected individuals have all three major features (periodic paralysis, cardiac arrhythmia, and physical abnormalities).</p><h3>Causes</h3><p>Mutations in the KCNJ2 gene cause about 60 percent of all cases of Andersen-Tawil syndrome. When the disorder is caused by mutations in this gene, it is classified as type 1 (ATS1).</p><p>The KCNJ2 gene provides instructions for making channels that transport positively charged potassium ions across the membrane of muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal function of muscles used for movement (skeletal muscles) and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of these potassium channels. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome.</p><p>Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the skeletal changes and other physical abnormalities often found in Andersen-Tawil syndrome.</p><p>In the 40 percent of cases not caused by KCNJ2 gene mutations, the cause of Andersen-Tawil syndrome is usually unknown. These cases are classified as type 2 (ATS2). Studies suggest that variations in at least one other potassium channel gene may underlie the disorder in some of these affected individuals.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome\">MedlinePlus: Andersen-Tawil syndrome</a></p></details><details class=\"deep-dive\"><summary>Ankyrin-B syndrome</summary><p>Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart&#x27;s normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.</p><p>Individuals with ankyrin-B syndrome may have problems with the sinoatrial (SA) node, which generates the electrical impulses that start each heartbeat. If the SA node is not functioning properly, the heartbeat can be too slow (bradycardia). In a small number of people with ankyrin-B syndrome, the heart takes longer than usual to recharge between beats, which is known as a prolonged QT interval (long QT). Some affected individuals have impaired progression (conduction) of electrical impulses between the chambers of the heart, which can cause a problem called heart block. Other heart problems that occur in ankyrin-B syndrome include irregular and uncoordinated electrical activity in the heart&#x27;s upper chambers (atrial fibrillation) or lower chambers (ventricular fibrillation) and an abnormality called catecholaminergic polymorphic ventricular tachycardia (CPVT), in which an increase in the heart rate can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. In people with ankyrin-B syndrome, arrhythmia can lead to fainting (syncope) or cardiac arrest and sudden death.</p><p>When associated with a prolonged QT interval, the condition is sometimes classified as long QT syndrome 4. However, because additional heart problems can result from changes in the same gene, long QT syndrome 4 is usually considered part of ankyrin-B syndrome.</p><h3>Causes</h3><p>Ankyrin-B syndrome is caused by mutations in the ANK2 gene, which provides instructions for making a protein called ankyrin-B. This protein is active in many cell types, including heart (cardiac) muscle cells. The ankyrin-B protein inserts certain structures called ion channels into their proper locations in the cell membrane. Ion channels are complexes of proteins that transport charged atoms (ions) across cell membranes. In the heart, the flow of ions (such as sodium, potassium, and calcium) through ion channels generates the electrical signals that control the heartbeat and maintain a normal heart rhythm.</p><p>Mutations in the ANK2 gene lead to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. The loss of functional ion channels in the heart disrupts the normal flow of ions, which alters the heart&#x27;s normal rhythm and causes the heart problems associated with ankyrin-B syndrome.</p><p>Not everyone with an ANK2 gene mutation has heart problems related to ankyrin-B syndrome. Researchers speculate that other genes or environmental factors may play a role in development of the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome\">MedlinePlus: Ankyrin-B syndrome</a></p></details><details class=\"deep-dive\"><summary>Timothy syndrome</summary><p>Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening.</p><p>Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart&#x27;s electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead to sudden death. Some people with Timothy syndrome are also born with structural heart defects (cardiomyopathy) that affect the heart&#x27;s ability to pump blood effectively.</p><p>As a result of these serious heart problems, some people with Timothy syndrome live only into childhood. In about 80 percent of cases of Timothy syndrome, the cause of death is a severe form of arrhythmia called ventricular tachycardia, in which the lower chambers of the heart (the ventricles) beat abnormally fast, often leading to cardiac arrest (the heart suddenly stops beating) and sudden death.</p><p>Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, low muscle tone (hypotonia), frequent infections, episodes of low blood glucose (hypoglycemia), and an abnormally low body temperature (hypothermia). The respiratory system and gastrointestinal tract can also be affected.</p><p>Neuropsychiatric features are also common in individuals with Timothy syndrome. Researchers have found that many children with Timothy syndrome have the characteristic features of autism spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Poor coordination is also frequent in affected individuals. Other nervous system disorders that can occur in Timothy syndrome include attention-deficit/hyperactivity disorder, intellectual disability and recurrent seizures (epilepsy); some affected individuals have photosensitive epilepsy, in which seizures are triggered by flashing lights.</p><h3>Causes</h3><p>Variants (also known as mutations) in the CACNA1C gene cause Timothy syndrome. This gene provides instructions for making a protein that acts as a small hole or pore (a channel) across cell membranes. This channel, known as CaV1.2, transports positively charged calcium atoms (calcium ions) into cardiac cells (cardiomyocytes) and nerve cells (neurons) in the brain. Calcium ions are important for many cellular functions, including regulating the electrical activity of cells, cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes, particularly those involved in the development of the brain and bones before birth.</p><p>Variants in the CACNA1C gene that cause Timothy syndrome change the structure of CaV1.2 channels. These gene changes lead to altered channels that stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause abnormal heart muscle contractions and arrhythmia. It is thought that the altered channels and flow of calcium ions also impair regulation of certain genes, resulting in the facial, dental, and neurological abnormalities in Timothy syndrome.</p><p>Other variants in the CACNA1C gene can cause isolated features of Timothy syndrome without the other associated health problems of the condition. For example, some people with CACNA1C gene variants may have only long QT syndrome or only neurodevelopmental disorders.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/timothy-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/timothy-syndrome\">MedlinePlus: Timothy syndrome</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"romano-ward-syndrome","sourceDocuments":[{"name":"Romano-Ward syndrome","reviewed":"2017-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:48.196606+00:00","label":"Causes","pageSha256":"21458351eefa6bffa9fe4f1f3283370c9cf158a629616190539002cf07965e5b","sourceUrl":"https://medlineplus.gov/genetics/condition/romano-ward-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/romano-ward-syndrome"},{"name":"Jervell and Lange-Nielsen syndrome","reviewed":"2006-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:35.879071+00:00","label":"Causes","pageSha256":"55f3155cbb0a16a4df2b998bea9204f1547bb1a3103679f0b4d123b44c02839b","sourceUrl":"https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome"},{"name":"Andersen-Tawil syndrome","reviewed":"2018-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:22.367684+00:00","label":"Causes","pageSha256":"06d75773925e7a4164a6eb0630def9edbc7416730d80bb03b9b7ca224f4ed318","sourceUrl":"https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome"},{"name":"Ankyrin-B syndrome","reviewed":"2017-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:25.431874+00:00","label":"Causes","pageSha256":"74c9f8fc4be82a264bded2d9a079bfe254d36094dbe12e46723ce09232c8cc00","sourceUrl":"https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome"},{"name":"Timothy syndrome","reviewed":"2023-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:29.139316+00:00","label":"Causes","pageSha256":"153ca79e24666c43f01c87e3ece2c288dc4c459d00a152018d4e2513387712f4","sourceUrl":"https://medlineplus.gov/genetics/condition/timothy-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/timothy-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Romano-Ward syndrome"},"schemaVersion":1}