what is stickler syndrome vs pierre robin syndrome?
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Stickler syndrome Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint problems.
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Isolated Pierre Robin sequence Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways. Most people with Pierre Robin sequence are also born with an opening in the roof of the mouth (a cleft palate).
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- In 1965, Stickler et al. described a family with joint manifestations and progressive myopia, associated with retinal detachment in the first decade of life and resulting in blindness[1]. In an additional report, mild sensorineural hearing impairment was added to the features typical of this syndrome[12].
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- From Wikipedia, the free encyclopedia. Savant syndrome is a condition in which a person with a developmental disability, such as an autism spectrum disorder, demonstrates profound and prodigious capacities or abilities far in excess of what would be considered normal.
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What is Williams Syndrome? Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.
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- Noirtier de Villefort, victim of a stroke, survived and learned to communicate by closing and opening his eyelids and by vertical movements of his eyes. In 1966, Plum and Posner described a false coma resulting from supranuclear motor de-efferentation that they called 'locked-in syndrome' (Plum and Posner, 1983).
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Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a rare disorder that can affect a child’s skin, eyes and nervous system. It is present at birth (congenital). The most obvious sign of SWS is usually a birthmark or port wine stain on the face or head.
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- Definition. Dressler's syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). Dressler's syndrome is believed to be an immune system response after damage to heart tissue or to the pericardium, from events such as a heart attack, surgery or traumatic injury.Symptoms include chest pain, which may be similar to chest pain experienced during a heart attack.Dressler's syndrome may also be called postpericardiotomy syndrome, post-myocardial infarction syndrome and post-cardiac injury syndrome.ymptoms include chest pain, which may be similar to chest pain experienced during a heart attack. Dressler's syndrome may also be called postpericardiotomy syndrome, post-myocardial infarction syndrome and post-cardiac injury syndrome.
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- The Eiffel Tower, Paris. Paris syndrome (French: Syndrome de Paris, Japanese: パリ症候群, Pari shōkōgun) is a transient mental disorder exhibited by some individuals when visiting or vacationing to Paris, as a result of extreme shock resulting from their finding out that Paris is not what they had expected it to be.
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Syndromes, Sequences, and Genetics 1. Pierre Robin sequence 2. early onset of osteoarthritis 3. myopia 4. SN hearing loss (esp high freq) 5. Conductive hearing loss (bc complications from cleft palate)
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Perrault syndrome Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.
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- Progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic condition that causes a child's body to age fast. Most kids with progeria do not live past the age of 13. The disease affects both sexes and all races equally.
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Pelizaeus-Merzbacher disease Connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms can begin in infancy and include problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures.
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- Ataxia-telangiectasia, also referred to as ataxia-telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system ...
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Medical Definition of Schwartz-Jampel syndrome Schwartz-Jampel syndrome: A syndrome characterized by short stature, blepharophimosis (horizontal narrowing of the eye slits), joint limitation, and myotonia (prolonged muscle contractions with a delay in relaxation). Certain subtypes of SJS are now recognized.
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Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS) Hutchinson-Gilford Progeria Syndrome is commonly referred to as Progeria or HGPS. Progeria is a genetic condition that occurs in 1 of every 4 to 8 million newborns, and manifests itself physically in children as rapid aging.The most common type of progeria is known as Hutchinson-Gilford Progeria Syndrome.rogeria is a genetic condition that occurs in 1 of every 4 to 8 million newborns, and manifests itself physically in children as rapid aging. The most common type of progeria is known as Hutchinson-Gilford Progeria Syndrome.
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- Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.
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- Stickler syndrome. Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI.
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Weber syndrome Home >> Rare diseases >> Weber syndrome. Weber\'s syndrome (superior alternating hemiplegia) is a form of stroke characterized by the presence of an oculomotor nerve palsy and contralateral hemiparesis or hemiplegia.
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- An autosomal dominant condition (OMIM:123500) characterised by craniosynostosis causing secondary defects of facial bones and structures, including hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
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- 5 The first stage is the developmental, or fragmentation, stage (acute Charcot) and is characterized by periarticular fracture and joint dislocation leading to an unstable, deformed foot (Figure 2). Patients in the coalescence stage (subacute Charcot) present with resorption of bone debris.
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- Marshall-Smith syndrome Simpson-Golabi-Behmel (SBGS), Sotos, Weaver (WVS) and Cohen-Gibson syndromes are overgrowth syndromes. They are characterized by pre- and postnatal overgrowth, accelerated osseous maturation, a characteristic craniofacial appearance, and developmental delay. read more
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Parsonage Turner Syndrome General Discussion. Parsonage-Turner syndrome (PTS) is an uncommon neurological disorder characterized by rapid onset of severe pain in the shoulder and arm. This acute phase may last for a few hours to a few weeks and is followed by wasting and weakness of the muscles (amyotrophy) in the affected areas.
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- Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina).
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- In the past, if you were under age 25 and needed a rental car, you were out of luck. Because younger drivers tend to be more inexperienced, rental-car companies often were reluctant to rent to them. Even now, most major rental-car companies rent to younger drivers only with the addition of a hefty daily fee.
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- Prader-Willi syndrome, also known as PWS is an uncommon genetic disorder (present at birth) in which seven genes (or subsets) on chromosome 15 are deleted or unexpressed.Patients with PWS may have physical, mental and behavioral problems-the main one being an unrelenting feeling of hunger.here is no cure for Prader-Willi syndrome, however, several treatments are available which help to lessen the signs and symptoms of the condition, including infant/child nutrition, growth hormone therapy, sex hormone therapy, physical therapy, speech therapy, occupational therapy, and developmental therapy.
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What is Prader-Willi Syndrome Prader-Willi Syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as a common genetic cause of childhood obesity.