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Noonan Syndrome (Female Pseudo-Turner Syndrome) Summary

Description: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.

Also Known As: Female Pseudo-Turner Syndrome; Male Turner Syndrome; Turner's Syndrome, Male; Female Pseudo Turner Syndrome; Male Turner Syndromes Show All >>

Networked: 298 relevant articles (8 outcomes, 15 trials/studies) for this Disease

Key Drugs and Agents for Noonan Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Growth Hormone (Somatotropin) : 2 outcomes 7 studies in 41 results : IBA
  2. Human Growth Hormone (Saizen) : 2 outcomes 5 studies in 9 results : FDA 15 Generic
  3. Prednisone (Sone) : 1 outcome in 1 result : FDA 119 Generic
  4. Diuretics : 1 outcome in 1 result : IBA
  5. Protein Kinases (Protein Kinase) : 1 study in 23 results : IBA
  6. Cardiofaciocutaneous syndrome : 1 study in 20 results : IBA
  7. Noonan like syndrome : 1 study in 15 results : IBA
  8. Phosphotransferases (Kinase) : 1 study in 5 results : IBA
  9. Hormones : 1 study in 3 results : IBA
  10. Factor XI (Plasma Thromboplastin Antecedent) : 1 study in 3 results : IBA
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Diseases Related to Noonan Syndrome

  1. Chylothorax
  2. Juvenile Myelomonocytic Leukemia
  3. Obstructive Sleep Apnea
  4. Myeloproliferative Disorders (Myeloproliferative Disorder)
  5. Hypertrophy
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Key Therapies for Noonan Syndrome

Efficacy Chart >>
  1. Adenoidectomy : 1 outcome in 3 results
  2. Hematopoietic Stem Cell Transplantation : 1 outcome in 1 result
  3. General Anesthesia : 3 results
  4. Ligation : 2 results
  5. Cesarean Section (Caesarean Section) : 2 results
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