Cloves syndrome

Medical condition CLOVES syndrome Other names Congenital Lipomatous Overgrowth- Vascular malformation- Epidermal nevi- Spinal anomaly syndrome Congenital Lipomatous Overgrowth- Vascular malformation- Epidermal nevi- Skeletal anomaly syndrome Mutations affecting PI3kinase are involved in the cause of this condition CLOVES syndrome is a rare It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. French doctor Guillaume Canaud CLOVES syndrome is closely linked to other overgrowth disorders like 'CLOVES' is an acronym for: • C is for • L is for • O is for overgrowth, because there is an abnormal increase in the size of the body or a body part that is often noted at birth. Patients with CLOVES may have affected areas of their bodies that grow faster than in other people. Overgrowth of extremities (usually arms or legs) is seen, with large wide hands or feet, large fingers or toes, wide space between fingers, and asymmetry of body parts. • V is for • E is for Epidermal • S is for Spinal/Skeletal Anomalies or The syndrome was first recognised by Saap and colleagues who recognised the spectrum of symptoms from a set of seven patients. Causes [ ] References [ ] • Sciences et Avenir (in French). 2018-06-14 . Retrieved 2022-06-08. • clovessyndrome.org. • Boston Childrens Hospital 2013. chi...

CLOVES Syndrome Also known as:CLOVE syndrome, CS, congenital lipomatous overgrowth, vascular malformations, epidermal nevis and scoliosis/skeletal/spinal anomalies. What is CLOVES syndrome? CLOVES syndrome is a very rare disorder, one of a group of congenital (present at birth) “overgrown syndromes”, that is characterized by the presence of several problems together.CLOVES stands for: • Congenital • Lipomatous • Overgrowth • Vascular • Epidermal Nevis • Spinal / Skeletal / Anomalies / Scoliosis This disorder includes: large collections (masses) of fatty tissue, complex vascular malformations, patches of overgrown skin, spine problems, other bone and joint abnormalities and stiff or weak muscles. What causes CLOVES syndrome? CLOVES syndrome is due to a genetic mutation that occurs while a fetus is developing in the womb. It does not appear to run in families. What are signs/the symptoms of CLOVES syndrome? Signs and symptoms of CLOVES syndrome include: • Soft fatty masses seen at birth, affecting one or both sides of the body, frequently located in the abdomen, buttocks, flanks, armpits, and back. • • Large wide hands or feet and other abnormalities of the arms and legs are common. • Skin birthmarks • Spinal anomalies like • Kidney problems What are CLOVES syndrome care options? As there are a wide range of problems and complications, a team of pediatric specialists and subspecialists is required to deliver optimal care. Reviewed by: This page was last updated on: July 24, ...

Welcome to CLOVES Syndrome Community The vision of CLOVES Syndrome Community is an improved quality of life for those living with CLOVES syndrome. Our mission is to support, educate, empower and improve the lives of those affected by CLOVES syndrome. CLOVES Syndrome Community does this by cultivating a thriving patient community, convening medical and family conferences, publishing books for children, funding medical research and assisting families with long term medical costs. We also bring families together for Betsy’s Camp, an annual opportunity for community, fun and relaxation. CLOVES Syndrome Community is part of the Chan Zuckerberg Initiative’s WHAT IS CLOVES SYNDROME? CLOVES Syndrome stands for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis and was identified simultaneously and independently by Saap et al. and Alomari. CLOVES is caused by a somatic genetic mutation in a gene called PIK3CA that increases the activity of the gene. CLOVES belongs to a category of diseases known as PIK3CA-related overgrowth spectrum or PROS. SHARE YOUR STORY We have a rapidly growing community of people with CLOVES and a network of supporters who want to learn more. One of the most powerful ways to spread awareness is by sharing your story. Awareness leads to action and to understanding more about the disease and the unique needs of our community. Thank you for sharing your story with us! This website is not int...

• Fatty tissue overgrowth: Soft lumps—also called lipomas—that form under the skin are often found on the stomach, back, and sides of CLOVES syndrome patients. • Blood vessel abnormalities: • Spinal problems: CLOVES syndrome may cause a curvature of the spine (known as • Asymmetric body parts: One side of the face, head, arms, or legs may be visibly shaped and sized differently than the other side. This includes large or wide hands and feet, along with unusual spacing between the fingers and toes. • Skin lesions: Unusually colored patches, birthmarks, or moles (also called • Kidney abnormalities: CLOVES syndrome can cause • Intestinal and bladder issues: Some patients may experience bleeding from the intestines (a part of the digestive system) or the In CLOVES syndrome, a change happens in the gene known as PIK3CA. It is a growth regulatory gene, meaning it plays an important role in instructing the body’s cells to grow or divide. When there is a mutation in the PIK3CA gene, cells can grow uncontrollably—leading to the overgrowth of fatty tumors and other issues. • Imaging: • Ultrasound: High-frequency sound waves are used to look at the organs in the abdomen, such as the kidneys. It can detect size or shape changes in organs, tissues, and blood vessels, and may show if there’s a tumor mass present. Ultrasound can also be used to check for CLOVES syndrome prenatally (while the baby’s still in the womb). • Genetic testing: Also known as a DNA test, sometimes a blood test ca...

CLOVES syndrome is an extremely rare condition. It is a disorder that is present at birth (congenital). This disorder causes abnormalities in blood vessels, skin, spine, joints and bones. CLOVES stands for Congenital Lipomatous assymetric Overgrowth, Vascular malformations, Epidermal nevi and Skeletal and spinal anomalies. This is similar to fibroadipose hyperplasia (FH) with more prominent blood vessel overgrowth, nevi (moles) and bone and spine problems. This condition may be noted on prenatal ultrasound or at birth. This may also progress with time. There may be life-threatening problems due to the overgrowth pushing on vital organs or because the increased blood vessel growth can lead to heart failure. The syndrome affects about 150 people worldwide. Causes and risk factors This is caused by a mutation in the PIK3CA gene during early development of the embryo in the womb Symptoms and types Symptoms can vary greatly from one child to the next, which can make this syndrome difficult to diagnose. These symptoms are always present at birth, but might not be noticeable right away. In general, children have some type of : • Fatty mass in their trunk (torso) • Deformities of the blood vessels • Skin abnormality such as scoliosis or tethered spinal cord (tissue is attached to the spinal cord so that it cannot move freely within the spinal canal) • Overgrowth of, or deformities in, arms, hands, legs or feet • Curvature of the spine (scoliosis or other spinal problem) Less commo...

Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevis, Spinal/Skeletal Anomalies/Scoliosis (CLOVES) syndrome is a very rare congenital (present at birth) disorder characterized by a combination of vascular (involving the blood vessels), skin, spinal, and bone or joint abnormalities. Fewer than 200 cases of CLOVES syndrome have been identified worldwide to date. CLOVES is thought to be caused by mutations in a gene called PIK3CA. The long-term picture for a child with CLOVES depends on age and how serious the symptoms are. The sooner the disease is detected and the proper course of treatment is started, the better the general outlook. CLOVES Syndrome | Symptoms & Causes What are the symptoms of CLOVES? The symptoms of CLOVES can vary a great deal from child to child and can range from mild to severe. They are always present at birth but might not be noticeable right away, depending on how extensive they are. Generally, in order to be diagnosed with CLOVES syndrome, a child will have one or more of the following: • soft, fatty masses on their torso or trunk (usually on their back, flank, or abdomen) • vascular (blood vessel) malformations — most often, a • limb abnormalities (typically, wide feet or toes and large or extra fingers or toes) • spinal problems (in many cases, • skin abnormalities (most often, raised, wart-like bumps called epidermal nevi) Less common symptoms can include: • problems with knee or hip joints • kidneys that are unusually small ...

What Is CLOVES Syndrome? CLOVES syndrome is a very rare • C: Congenital (present at birth) • L: Lipomatous (referring to lipomas, soft fatty masses often found on one or both sides of the back and belly) • O: Overgrowth (of fatty tissue in some body areas, which grow much more quickly than others) • V: Vascular malformations (problems with • E: Epidermal nevi (skin lesions) • S: Spinal/skeletal anomalies and/or CLOVES and other rare conditions that can cause similar symptoms are often called overgrowth disorders.These are part of a larger group of similar disorders called PIK3CA-related overgrowth spectrum (PROS). What Are the Signs & Symptoms of CLOVES Syndrome? Children who have CLOVES syndrome are born with the condition. It can cause: • fatty tissue masses on the belly, back, or sides • problems with feet and hands (large, wide hands and feet; large fingers or toes; unusual spacing between toes and fingers) • dilated veins (chest, arms, legs, and feet with a risk of blood clots) • • spinal curvature ( • kidney problems (unusual size, asymmetry, • intestinal and bladder problems (bleeding) • asymmetric growth (one side grows faster than the other, such as the arms and legs or head) CLOVES syndrome symptoms vary widely in combination and severity. Some children have mild symptoms, while others can have serious, life-threatening problems. What Causes CLOVES Syndrome? CLOVES is caused by a How Is CLOVES Syndrome Diagnosed? Doctors usually diagnose CLOVES at birth based on ...