what is schwartz jampel syndrome
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- Background. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different inherited, autosomal recessive conditions, sometimes termed SJS type I and SJS type II. Both are very rare. SJS type I has 2 recognized subtypes, IA and IB, which are similar, except that type IB manifests earlier and with greater severity.
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Cowden Syndrome What is Cowden Syndrome? Cowden syndrome is an autosomal genetic condition refer to multiple benign tumor growth in the skin and mucous membrane. The name of the Cowden’s syndrome was derived after the first expressed patient, Rachael Cowden, in the year 1963. The outer growth of the tissue is termed as hamartomas.
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Helping Adult Children with Parental Alienation Syndrome Peutz-Jeghers syndrome is a rare condition that can be passed from affected parents to their children. So it can be inherited. Which means that sometimes cervical cancer is inherited this way too. There are other rare conditions like this as well but they aren't involved in most cases of cervical cancer.Like I said, most of these come from that virus, HPV.es, but the risk is tiny. And even if babies do get the HPV virus from mom, their bodies usually get rid of the virus on their own. Having said all of this, I don't want to imply that there aren't any cases where cervical cancer isn't inherited. It does happen occasionally.
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Hereditary hemorrhagic telangiectasia Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Types 1, 2 and 3 do not appear to increase the likelihood of such polyps.
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Frey's Syndrome Frey’s Syndrome, also known as Gustatory Sweating Syndrome, is a disorder that occurs due to a facial nerve injury, after a surgical procedure is performed (for various reasons), on the parotid gland
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Hereditary hemorrhagic telangiectasia Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Hereditary hemorrhagic telangiectasia types 1, 2 and 3 do not appear to increase the likelihood of such polyps.
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- Zollinger-Ellison syndrome (ZES) is an endocrinopathy. Zollinger-Ellison Syndrome is also called Strom-Zollinger-Ellison syndrome. Zollinger-Ellison syndrome (ZES) is an endocrinopathy. Zollinger-Ellison Syndrome is also called Strom-Zollinger-Ellison syndrome.
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Smith-Lemli-Opitz Syndrome Clinical Presentation Three different groups reported the molecular genetic basis for Smith-Lemli-Opitz syndrome simultaneously. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene, the gene that codes for the enzyme DHCR7 that normally converts 7DHC to cholesterol in the final step of the cholesterol synthetic pathway.
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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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Rumination syndrome Rumination syndrome, or Merycism, is an under-diagnosed chronic motility disorder characterized by effortless regurgitation of most meals following consumption, due to the involuntary contraction of the muscles around the abdomen.iagnosis of rumination syndrome is non-invasive and based on a history of the individual. Treatment is promising, with upwards of 85% of individuals responding positively to treatment, including infants and the mentally handicapped.
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Polycystic Ovarian Syndrome (PCOS, POS, POD, Stein-Leventhal Syndrome) What is polycystic ovarian syndrome (PCOS)? Polycystic ovarian syndrome (PCOS), also known by the name Stein-Leventhal syndrome, is a hormonal problem that causes women to have a variety of symptoms. It should be noted that most women with the condition have a number of small cysts in the ovaries.
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- Neuroimaging of phakomatoses: Sturge-Weber syndrome, tuberous sclerosis, von Hippel-Lindau syndrome James G. Smirniotopoulos, MD Uniformed Services University, 4301 Jones Bridge Road, Bethesda, MD 20814, USA Sturge-Weber syndrome Sturge-Weber syndrome or Sturge-Weber disease, encephalo-trigeminal angiomatosis, is a congenital
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Nasal congestion and Sneezing Common cold The common cold is a viral respiratory infection causing sore throat, stuffy or runny nose, headache and more. Allergic reaction Allergic reaction causes sneezing, runny nose and hives and can lead to anaphylaxis, a whole body reaction.
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Turner syndrome Turner syndrome; Synonyms: Ullrich–Turner syndrome, gonadal dysgenesis, 45X, 45X0: Girl with Turner syndrome before and after an operation for neck-webbing: Specialty: Pediatrics, medical genetics: Symptoms: Webbed neck, short stature, swollen hands and feet: Complications: Heart defects, diabetes, low thyroid hormone: Usual onset: At birth: Duration: Long term
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- Klüver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior.
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Crouzon syndrome Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. This syndrome is named after Octave Crouzon, a French physician who first described this disorder. He noted the affected patients were a mother and her daughter, implying a genetic basis.
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- Landau-Kleffner syndrome (LKS) is a childhood disorder. A major feature of LKS is the gradual or sudden loss of the ability to understand and use spoken language.
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Waardenburg syndrome Type 4 Waardenburg syndrome (also called Waardenburg-Shah syndrome) is characterized by symptoms of Hirschsprung's disease in addition to the classic features of hearing loss and pigmentation abnormalities.
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- 1 Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that can affect people of all races and nationalities. Symptoms often first appear during infancy, usually between three and six months of age, in the form of a skin rash on the cheeks. Patients can have just a few or several features of the syndrome.
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Kleine-Levin Syndrome Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male).
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Horner's Syndrome They are designed for health professionals to use, so you may find the language more technical than the condition leaflets. Synonym: Bernard-Horner syndrome (commonly used in France); oculosympathetic paresis. This is a rare condition that results from disruption of the sympathetic nerves supplying the eye. There is the triad of: Partial ptosis (upper eyelid drooping).
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- Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.
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Search for a rare disease Summary. Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.
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Jarcho-Levin Syndrome General Discussion. 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.t is possible that the main title of the report Jarcho-Levin Syndrome is not the name you expected.
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- Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a form of ectodermal dysplasia that affects the outer layer of a developing baby called the ectoderm.eople with NFJ syndrome are of normal intelligence and tend to be in otherwise good health. Although there is no cure for NFJ, most people with the disorder can expect to live long healthy lives. You should read product labels, and discuss all therapies with a qualified healthcare provider.