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  • mnemonic
  • An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat. (wikipedia.org)
  • Protein
  • The research team had previously discovered that Noonan syndrome involves a hyperexpression of a protein called Ras, which disrupts communication in the brain. (nbcnews.com)
  • The study of [syndromes involving the Ras protein] taught us that too much or too little Ras activity can both be bad for health, including brain function," Silva said. (nbcnews.com)
  • The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. (wikipedia.org)
  • genes
  • Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. (rarediseases.org)
  • macrocephaly
  • Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome ( macrocephaly , high forehead, wide-set eyes or hypertelorism, palpebral ptosis , and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). (nih.gov)
  • neurofibromatosis
  • Neurofibromatosis 1 (NF1), also called von Recklinghausen's disease, is a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). (rarediseases.org)
  • Lovastatin also may improve learning in people with another Ras-related syndrome called neurofibromatosis type I, Silva said. (nbcnews.com)
  • malformation
  • Popliteal pterygium syndrome is a disorder characterized by cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw and adhesion of upper and lower eyelids. (rarediseases.org)
  • A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics). (wikipedia.org)
  • genetically
  • Julie recently started the RASopathies Foundation to help people who suffer from NS and other genetically related syndromes that are called RASopathies. (dailyherald.com)
  • infancy
  • The name JMML now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia (JCML), chronic myelomonocytic leukemia of infancy, and infantile monosomy 7 syndrome. (wikipedia.org)
  • severe
  • Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. (bireme.br)
  • As a result of having Noonan Syndrome, Ellie has severe gastrointestinal issues and the only thing she can take by mouth is water. (dailyherald.com)
  • children
  • The aim of this trial is to evaluate the effect of somatropin (Norditropin┬«) on final height in children with Noonan syndrome having being treated for up to 10 years with somatropin (Norditropin┬«) for the attainment of an optimal final height in the original trial S/GHD/004/NOO. (clinicaltrials.gov)
  • Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children. (stlukes-stl.com)
  • The children with his syndrome may have problems in gaining weight, though birth weight is normal. (amazonaws.com)
  • Intellectual disability in children can be caused by genetic or environmental factors. (wikipedia.org)
  • common
  • These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the body. (wikipedia.org)
  • diagnosis
  • CONCLUSIONS: TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. (bireme.br)
  • mnemonic
  • An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat. (wikipedia.org)
  • molecular
  • In some cases, however, are not comfortable prescribing and monitoring of possible aspiration, focal abnormal lung examination, or an explanation for apnea has been recently used in management of tumor necrosis factor, but has an important cause of about mg/dl in critically ill patients should be ordered only by molecular genetic studies show that survivors with more severe in older adolescents but not disease-specific concentrations higher than. (pmhccares.org)
  • cause
  • Researchers are unsure of the cause of pectus excavatum but assume that there is a genetic component for at least some of the cases as 37% of individuals have an affected first degree family member. (wikipedia.org)
  • patients
  • Serum Lipopolysaccharide-Binding Protein is Associated with Chronic Inflammation and Metabolic Syndrome in Hemodialysis Patients. (nih.gov)
  • The specific genes that put a person at risk for myositis have not been identified, but there may be genetic factors that increase the likelihood in some patients for myositis to occur. (columbiadoctors.org)
  • There have been few reports of patients with Noonan syndrome who have subsequently suffered from Malignant Hyperthermia (MH). (wikipedia.org)
  • Despite the various possible developmental/learning issues that can be seen in NS, there are Noonan Syndrome patients that have advanced degrees, including at least two that have become attorneys. (wikipedia.org)
  • It is also sometimes found on the hand of the affected side of patients with Poland Syndrome, and craniosynostosis. (wikipedia.org)
  • known
  • A lethal version of this condition is known as Cowchock Wapner Kurtz syndrome that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system. (wikipedia.org)
  • In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known in palmistry as the "heart line" and the "head line") and is found in people with Down Syndrome. (wikipedia.org)
  • features
  • Short stature and mild mental retardation are the main features of this syndrome. (dmoztools.net)
  • Includes the alternate names, a summary and a list of major features for Noonan syndrome. (dmoztools.net)
  • The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. (wikipedia.org)
  • found
  • Cherubism is displayed with genetic conformation and when excessive osteoclasts are found in the affected areas of the mandible and maxilla. (wikipedia.org)
  • One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD). (wikipedia.org)
  • type
  • Non-collagenous domain basement membrane collagen type IV is autoantigen (target antigen) of autoantibodies in the autoimmune disease Goodpasture's syndrome. (wikipedia.org)
  • Resources
  • Cryoconservation of animal genetic resources is a practice that calls for the collection of genetic material in efforts for conservation of a particular breed. (wikipedia.org)
  • people
  • In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent. (wikipedia.org)
  • People with Donnai-Barrow syndrome may also have a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia. (wikipedia.org)
  • heart
  • While South Asians show increased classical risk factors for developing heart failure, the role of population-specific genetic risk factors has not yet been examined for this group. (frontiersin.org)
  • left
  • In 1979, at the invitation of Philip D. Pallister, Opitz left the University of Wisconsin to become the Director of the Shodair-Montana Regional Genetic Service Program in Helena, Montana. (wikipedia.org)