what is sanfilippo syndrome
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- The disease. Sanfilippo syndrome (MPS III) is an inherited disease and one of the mucopolysaccharidoses (MPS diseases). They are rare metabolic disorders caused by deficiencies in various lysosomal enzymes which normally help to break down different substances in the body.he disease. Sanfilippo syndrome (MPS III) is an inherited disease and one of the mucopolysaccharidoses (MPS diseases). They are rare metabolic disorders caused by deficiencies in various lysosomal enzymes which normally help to break down different substances in the body.
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Laron syndrome Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone, usually caused by a mutant growth hormone receptor. It causes short stature and an increased sensitivity to insulin which means that they are less likely to develop diabetes mellitus type 2 and possibly cancer as well. It can be treated with injections of recombinant IGF-1.
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Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood.he signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button.
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- Sanfilippo syndrome. Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).ummary. Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
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Fetal Alcohol Syndrome Fetal alcohol syndrome (FAS) is a pattern of physical and mental defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy.
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Shaken Baby Syndrome Shaken baby syndrome (or SBS) is caused by vigorous shaking of an infant or young child by the arms, legs, chest or shoulders. Forceful shaking can result in brain damage leading to intellectual or developmental disabilities, speech and learning disabilities, paralysis, seizures, hearing loss and even death.hat is known is that Shaken Baby Syndrome is the most common cause of mortality and accounts for the most long-term disability in infants and young children due to physical abuse (Reece & Kirschner, 1998). One shaken baby in four dies as a result of this abuse (Poissaint & Linn, 1997).
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- Stiff Person Syndrome (SPS) is a rare disease of the nervous system. Progressively severe muscle stiffness typically develops in the spine and lower extremities; often beginning very subtly during a period of emotional stress. Most patients experience painful episodic muscle spasms that are triggered by sudden stimuli.
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Proteus syndrome Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body.The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.roteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body.
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Polycystic Ovarian Syndrome (PCOS, POS, POD, Stein-Leventhal Syndrome) PCOS is also called the Stein-Leventhal syndrome. Women with PCOS do not ovulate -- they do not release an egg every month -- and they are at significantly higher risk for high blood pressure, diabetes, heart disease, and cancer of the uterus (endometrial cancer).
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Stevens Johnson Syndrome associated with Lamotrigine (July 2015). Stevens–Johnson syndrome a form of toxic epidermal necrolysis, is a life-threatening skin condition, in which cell death causes the epidermis to separate from the dermis. The syndrome is thought to be a hypersensitivity complex that affects the skin and the mucous membranes.
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Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP), is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged.In many cases, injuries can cause joints to become permanently frozen in place. mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place.
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- In this study, researchers from Taiwan looked for specific factors or patient variables that might account for the success of this treatment. Patellofemoral Syndrome (PFS) is a condition that causes pain in and around the patella (knee cap). In the normal, healthy adult, the patella moves smoothly up and down over a groove on the femur (thigh bone) as the knee bends and straightens.
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Wolff-Parkinson-White Syndrome (WPW Syndrome) Wolff-Parkinson-White syndrome is a specific type of abnormality of the electrical system of the heart. This syndrome causes a specific pattern on an electrocardiogram (Wolff-Parkinson-White pattern) and is linked to an episode of rapid heart rates, such as supraventricular tachycardia (SVT) or atrial fibrillation.Wolff-Parkinson-White syndrome is a treatable medical condition.Wolff-Parkinson-White syndrome is also referred to as WPW syndrome and pre-excitation syndrome.olf-Parkinson-White syndrome can affect all ages but is usually diagnosed in children, adolescents, and young adults. Except in rare circumstances, Wolff-Parkinson-White syndrome is not a hereditary condition.
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Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.
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Ayerza Syndrome Ayerza Syndrome (medical condition): A rare condition where sclerosis of the pulmonary arteries cause... more ». See also: Idiopathic pulmonary hypertension : » Introduction: Idiopathic pulmonary hypertension. » Symptoms of Idiopathic pulmonary hypertension.
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- What Is FOP! What is Fibrodysplasia Ossificans Progressiva (FOP) Fibrodysplasia Ossificans Progressiva (FOP) is one of the rarest and most disabling genetic conditions known to medicine, causing bone to form in muscles and other connective tissues such as tendons and ligaments.
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What is Marfan Syndrome? Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.Connective tissue is made up of proteins.The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β.he protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
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PFAPA Syndrome PFAPA syndrome is a relatively common periodic fever among children. Although genetic causes have not been determined, this syndrome tends to be grouped with hereditary fever syndromes. It typically starts in early childhood (between ages 2 yr and 5 yr) and tends to be more common among males.
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- Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities.here are apparently two forms of Jarcho-Levin Syndrome that are inherited as autosomal recessive genetic traits and termed spondylocostal dysostosis type 1 (SCDO1) and spondylocostal dyostosis type 2 (SCDO2).
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What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome is a group of physical, mental, and neurobehavioral birth defects that result from the mother drinking alcohol during her pregnancy. The facial characteristics of FAS may be most apparent in a child who is between the ages of two and ten. Prenatal alcohol exposure does not always result in FAS.
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- The syndrome is associated with intellectual disability, low muscle tone (hypotonia), characteristic facial features, constipation, Hirschsprung disease (an intestinal condition), epilepsy, short stature, small head (microcephalus) as well as malformations of the heart, brain, genitals, urinary tract and eyes.
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Stiff person syndrome Stiff person syndrome (SPS), also known as stiff man syndrome (SMS), is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities.
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Peter Pan Syndrome Peter Pan Syndrome is a disorder in which a man is unable to grow into maturity. They may grow physically as an adult but choose to hang on to their childhood in avoidance of assuming responsibility like a mature person. They are men who stay as boys inside. They are also imprisoned in the result given by the freedom of youth.
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- Ayerza Syndrome (medical condition): A rare condition where sclerosis of the pulmonary arteries cause... more ». See also: Idiopathic pulmonary hypertension :
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- Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and other birth defects in the hands and feet. The abnormality of the skull bones causes changes in the shape of the face and head.