Definitions for noonan syndrome
noo·nan syn·drome

WiktionaryRate this definition:0.0 / 0 votes

1. Noonan syndromenoun

   A relatively common autosomal-dominant congenital disorder, a form of dwarfism accompanied by heart defect, learning difficulties, and a characteristic facial appearance.

2. Etymology: After, paediatric cardiologist.

WikipediaRate this definition:0.0 / 0 votes

1. Noonan syndrome

   Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence in the syndrome is often normal. Complications of NS can include leukemia.A number of genetic mutations can result in Noonan syndrome. The condition may be inherited as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves overactivation within the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. Confirmation may be achieved with genetic testing.No cure for NS is known. Treatment is based on the symptoms and underlying problems, and extra support in school may be required. Growth hormone therapy during childhood can increase an affected person's final height. Long-term outcomes typically depend on the severity of heart problems.An estimated 1 in 1000 people are mildly affected by NS, while about 1 in 2,000 have a more severe form of the condition. Males appear to be affected more often than females. The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963.

WikidataRate this definition:0.0 / 0 votes

1. Noonan syndrome

   Noonan syndrome is a relatively common autosomal dominant congenital disorder that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome; however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. It is a RASopathy, as the syndrome is in the family of RAS-MAPK pathway disorders. It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Noonan Syndrome

   A 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. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

How to pronounce noonan syndrome?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say noonan syndrome in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of noonan syndrome in Chaldean Numerology is: 7

2. Pythagorean Numerology

   The numerical value of noonan syndrome in Pythagorean Numerology is: 6

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Noonan_Syndrome
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Noonan_Syndrome
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=noonan syndrome