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Below are the most recent content updates.
✎ New: SYNGAP1
SYNGAP1 is a genetic cause of intellectual disability (moderate to severe), seizures, and autism. People living with SYNGAP1 may also have issues with mood disorders, impulsive behavior, and attention deficits. They tend to have these neurological issues without also having birth defects (non-syndromic intellectual disabilty). SYNGAP1 is caused by changes or mutations in the SYNGAP1 gene. Most often the SYNGAP1 gene changes in an person living with SYNGAP1 happened for the first time in that person and are not passed down from a parent. Learn more.
✎ New: Tay-sachs disease
Tay-Sachs disease is a rare neurological disorder. Individuals with this disorder cannot break down a normal substance in the body called GM2 ganglioside, a type of fatty material called a lipid. Because they can’t break this substance down, it builds up in cells of the body, particularly nerve cells in the brain and spinal cord. When enough of this fatty material builds up, it destroys the cells and damages the surrounding tissue. The most common form of Tay-Sachs disease is the early infantile form. Learn more.
✎ New: Von hippel-lindau syndrome
Von Hippel-Lindau (VHL) syndrome is a rare disorder in which tumors and cysts develop in different parts of the body. These tumors may be benign (non-cancerous) or cancerous. People may have tumors called hemangioblastomas. These tumors are made up of newly-formed blood vessels. The tumors are non-cancerous, but can cause serious problems depending on where in the body they are located, which often includes the brain, spinal cord or eyes. Learn more.
► Updated: Achondrogenesis
Achondrogenesis is a group of conditions that affect the cartilage and bone development. Individuals with achondrogenesis have a small body, short limbs, and other skeletal abnormalities. Learn more.
► Updated: Alpha-thalassemia
Alpha-thalassemia is a fairly common blood disorder that results in reduced amounts of hemoglobin, the protein in red blood cells that carries oxygen to cell in the body. This lowers the amount of oxygen that cells receive, causing various health problems, including anemia. Learn more.
► Updated: Andersen-tawil syndrome
Andersen-Tawil Syndrome is a genetic condition that causes periods of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and intellectual and developmental abnormalities. Other features can include low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Learn more.
► Updated: Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome (CFC) is a genetic condition that can affect the heart, facial features, skin and hair. Cardio stands for heart. Facio stands for facial features. Cutaneous stands for skin and hair. These are the main parts of the body affected when a person has CFC. Nail differences can be seen as well. People with this condition also have growth delays, delays in development and intellectual disability. The severity of developmental delay and intellectual disability varies from person to person. Not everyone with this condition is affected the same. Learn more.
► Updated: Congenital insensitivity to pain
Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Over time this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. Congenital insensitivity to pain is caused by mutations in the SCN9A gene and in rare cases is caused by mutations in the PMRD12 gene. It is inherited in an autosomal recessive pattern. Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch smell and pain. It is part of a group known as hereditary sensory and autonomic neuropathies. Learn more.
► Updated: Duchenne and becker muscular dystrophy
Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that causes weakness and wasting (atrophy) of the muscles. The first signs of DMD are often that the baby is late to sit, stand, and walk. When many children with DMD do walk it may be mainly on their toes (toe-walking) or with an odd waddle. Toddlers and children also may have large calves due to muscle damage (pseudohypertrophy). Muscle weakness usually starts in the pelvic and hip area and then moves to other muscles. Next it can affect the shoulder muscles, trunk, and arms. The disease gets worse over time (is progressive) and most people require a wheelchair by their teenage years to move around. Learn more.
► Updated: Familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is an inherited condition that runs in the family and causes an increased risk for people who have it to grow many (over one hundred) polyps in their colon. Polyps are abnormal growths of tissue that can turn into cancer if left untreated. The type of polyps found in FAP are called adenomatous polyps. There is also a predisposition for developing other cancers including: small intestinal cancer, pancreatic cancer, thyroid cancer, and hepatoblastoma (tumor of the liver) in children. Having a mutation in the APC genes does not guarantee someone will develop cancer. However, if left untreated, up to 93% of individuals with FAP will develop colon cancer by age 50. Learn more.
► Updated: Hemophilia A
Hemophilia A is a genetic bleeding disorder caused by a change in a gene on the X chromosome called F8. This causes a lack or shortage of the factor VIII (FVIII) protein in their blood that is supposed to help form clots to stop bleeding in response to an injury. People who lack this protein often bleed longer than others and require medicine to stop bleeding. They may have frequent nosebleeds and can have internal bleeding, or bleeding inside their body, without any kind of injury. They also tend to have bleeding in their joints and muscles. People with a severe type of hemophilia A have more bleeding symptoms than people with a mild type. Learn more.
► Updated: Hemophilia B
Hemophilia B is a genetic bleeding disorder caused by a change in a gene on the X chromosome. This causes a lack or shortage of the Factor IX (FIX) protein in the blood. This protein is supposed to help form clots to stop bleeding after an injury. People who lack this protein often bleed longer than others and require medicine to stop bleeding. They can have internal bleeding (bleeding inside their body) without any kind of injury. They also tend to have bleeding in their joints and muscles. People with a severe type of hemophilia B have more bleeding symptoms than people with a mild type. Learn more.
► Updated: Hypophosphatasia
Hypophosphatasia is a rare inherited disorder that causes poor bone and teeth development. This happens because of a problem with bone mineralization. Bone mineralization is when minerals like calcium and phosphorus are placed in the bone for strength and good growth. Bones that do not have proper mineralization can be soft and break easily. They can also be formed incorrectly and cause bowing in bones. People with hypophosphatasia may also have tooth loss. There are six main forms of hypophosphatasia with varying severity of symptoms. Learn more.
► Updated: Lysosomal acid lipase deficiency
Lysosomal acid lipase (LAL) deficiency is a rare genetic disorder. People with this disorder are missing an enzyme called lysosomal acid lipase. This enzyme has a job. It is supposed to break down certain fats in the body. Because people don’t have enough of this enzyme, certain fats called triglycerides and cholesteryl esters build up in various organs of the body. The liver and spleen are often affected. This abnormal buildup of fats damages the affected organs. Doctors refer to LAL deficiency as a spectrum of disease – this means that the symptoms and the severity of the disorder can be very different among people. Sometimes, the disorder causes very severe problems right after birth. It can rapidly get worse in these infants and quickly cause life-threatening problems or death within the first year of life. Other times, the disorder can be much less severe or even cause very few, mild symptoms. Learn more.
► Updated: Phenylketonuria
Phenylketonuria, or PKU, is a rare genetic disorder. People with this disorder lack a substance in the body called phenylalanine hydroxylase (PAH). This substance is an enzyme needed to break down an amino acid called phenylalanine. Phenylalanine is a ‘building block’ that we get from our food that is required for proper growth and development. Because people with PKU lack the enzyme PAH, the amino acid, phenylalanine builds up in the blood, brain and other tissues of the body. When phenylalanine builds up, it can damage the body and harm the brain. If untreated, PKU can eventually cause serious problems including intellectual disabilities, seizures, and behavioral problems. The main form of the disorder, classic PKU, is usually identified through newborn screening so treatment is often started before symptoms begin. Learn more.
► Updated: Prader-willi syndrome
Prader-Willi syndrome (PWS) is a rare and complex genetic disease. PWS affects the whole body. When babies are born with Prader-Willi syndrome, they have low muscle tone (hypotonia), problems feeding, poor growth (failure to thrive), and developmental delays. Baby boys usually have undescended testicles. Learn more.
► Updated: Roberts syndrome
Roberts syndrome is a rare genetic disorder. It is caused by a spelling change in a gene called ESCO2. This spelling change results in abnormal growth and development of different parts of the body, most often the arms, legs, and face. Children with Roberts syndrome are often born with short arms and legs and are sometimes missing toes and fingers. They may also have facial features that look different than other people in their family. Children with Roberts syndrome are often born with an opening in the roof of the mouth (cleft palate), an opening in the upper lip (cleft lip), a small chin (micrognathia), eyes that are far apart (hypertelorism), down-slanting eyes, small head size (microcephaly), and a small, pointed nose. They can also have problems with their heart, kidneys, and genitals. Some people with Roberts syndrome have more features, while another people with Roberts syndrome have fewer features. There is a range of severity for this condition. Learn more.
► Updated: Sotos syndrome
Sotos syndrome is a rare genetic disorder caused by either a deletion of the NSD1 gene or a change in the NSD1 gene. This condition is characterized by fast growth in childhood. Overgrowth begins early; babies are usually born larger than average with bigger head sizes. Children continue to have faster growth throughout childhood. Facial features can include down-slanting eyes, long and narrow face and red (flushed) cheeks. Individuals with Sotos syndrome also have developmental delay especially in speech and movement because of muscle weakness. Individuals grow up to have learning disabilities, which can range from mild to severe. Behavior problems such as ADHD and autism are also increased. Learn more.
[Batch Update 2016-09-27]