• Diseases
  • To learn more about HCM associated with various genetic diseases, Mount Sinai scientists took skin cells from three CFC patients and turned them into highly versatile stem cells, which were then converted into cells responsible for the beating of the heart. (superdoctors.com)
  • Due to the rarity of the syndrome itself, it is hard to determine whether certain additional diseases are actually part of the syndrome. (wikipedia.org)
  • Gelb
  • An expert in Noonan syndrome, Dr. Gelb has studied the genetic origins of this disease to understand its pathogenesis. (mssm.edu)
  • At present, there is no curative option for HCM in patients with these related genetic conditions," said Bruce D. Gelb, MD, Director of The Mindich Child Health and Development Institute and Professor in the Departments of Pediatrics, Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. (superdoctors.com)
  • LEOPARD
  • 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)
  • The two most common syndromes under this "umbrella" are: Leopard syndrome (LS) and Noonan syndrome (NS). (wikipedia.org)
  • Missense mutations in the PTPN11 locus are associated with both Noonan syndrome and Leopard syndrome. (wikipedia.org)
  • molecular
  • Molecular genetic testing can help confirm a diagnosis. (mayoclinic.org)
  • Alcoholism, for example, has been identified as a cause of dilated cardiomyopathy, as has drug toxicity, and certain infections (including Hepatitis C). On the other hand, molecular biology and genetics have given rise to the recognition of various genetic causes. (wikipedia.org)
  • These categories are further broken down into subgroups which incorporate new genetic and molecular biology knowledge. (wikipedia.org)
  • 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)
  • hypertrophic cardiomyopathy
  • Using advanced stem cell technology, scientists from the Icahn School of Medicine at Mount Sinai have created a model of a heart condition called hypertrophic cardiomyopathy (HCM) - an excessive thickening of the heart that is associated with a number of rare and common illnesses, some of which have a strong genetic component. (superdoctors.com)
  • Types of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and takotsubo cardiomyopathy (broken heart syndrome). (wikipedia.org)
  • defects
  • There's no cure for Noonan syndrome, but medical and surgical treatments are important for complications such as the congenital heart defects, and supportive therapy, such as educational support or speech therapy, can help individuals reach their potential. (lymphedemapeople.com)
  • common
  • 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)
  • 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)
  • A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. (mayoclinic.org)
  • 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)
  • Intellectual disability in children can be caused by genetic or environmental factors. (wikipedia.org)
  • Condition
  • Sometimes, Noonan syndrome isn't diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition. (mayoclinic.org)
  • She presented her first paper on the subject in 1963, and after several more papers and recognition, the condition was officially named Noonan syndrome in 1971. (wikipedia.org)
  • Aside from the rare distinction of having a medical condition named after her, Noonan has received numerous other honors, including the 1971 Helen B. Frazer Award, the 1985 Harpers Bazaar's Best Women Doctors in America, and later The Best Doctors in America award. (wikipedia.org)
  • A condition known as "neurofibromatosis-Noonan syndrome" is associated with neurofibromin. (wikipedia.org)
  • A condition previously classified as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been found to be caused by LRP2 mutations. (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)
  • High-resolution ultrasound in pregnant women with a family history of Noonan's may detect features suggestive of the syndrome. (lymphedemapeople.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)
  • found
  • Cherubism is displayed with genetic conformation and when excessive osteoclasts are found in the affected areas of the mandible and maxilla. (wikipedia.org)