| Noonan syndrome | |
|---|---|
| Other names | Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome [1] |
 | |
| A 12-year-old girl with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. | |
| Specialty | Medical genetics, pediatrics |
| Symptoms | Mildly unusual facial features, short height, congenital heart disease, bleeding problems, skeletal malformations [1] |
| Complications | Leukemia [1] |
| Usual onset | Present at birth [2] |
| Types | Type 1 to 6 [3] |
| Causes | Genetic mutation ( autosomal dominant) [1] |
| Diagnostic method | Suspected based on symptoms, confirmed with genetic testing [4] [2] |
| Differential diagnosis | Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] |
| Treatment | Based on the symptoms [3] |
| Medication | Growth hormone [3] |
| Prognosis | Depends on the severity of heart problems [3] |
| Frequency | 1 in 100 (1 in 2,000 severe disease) [4] |
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. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1] Heart problems may include pulmonary valve stenosis. [1] The breast bone may either protrude or be sunken, while the spine may be abnormally curved. [1] Intelligence is often normal. [1] Complications of NS can include leukemia. [1]
A number of genetic mutations can result in Noonan syndrome. [1] The condition may be inherited from a person's parents as an autosomal dominant condition or occur as a new mutation. [3] [1] Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves a problem with a cell signaling pathway. [1] The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. [2] [4] Confirmation may be achieved with genetic testing. [2] It can appear similar to Turner's syndrome. [5]
No cure for NS is known. [6] Treatment is based on the symptoms and underlying problems. [3] Extra support in school may be required. [3] Growth hormone therapy during childhood can increase an affected person's final height. [3] Long-term outcomes typically depend on the severity of heart problems. [3]
An estimated 1 in 100 people are mildly affected, while about 1 in 2,000 have a more severe form of the disease. [4] Males appear to be affected more often than females. [2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. [2]
- ^ a b c d e f g h i j k l m "Noonan syndrome". Genetics Home Reference. Archived from the original on 24 December 2018. Retrieved 24 December 2018.
- ^ a b c d e f g "Noonan Syndrome". NORD (National Organization for Rare Disorders). 2016. Archived from the original on 24 December 2018. Retrieved 24 December 2018.
- ^ a b c d e f g h i j "Noonan syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 19 October 2019. Retrieved 25 December 2018.
- ^ a b c d Bhambhani V, Muenke M (January 2014). "Noonan syndrome". American Family Physician. 89 (1): 37–43. PMC 4099190. PMID 24444506.
- ^ James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "27. Genodermatoses and congenital anomalies". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. p. 553. ISBN 978-0-323-54753-6. Archived from the original on 2022-04-19. Retrieved 2022-04-18.
- ^ "Noonan Syndrome - Children's Health Issues". Merck Manuals Consumer Version. Archived from the original on 25 December 2018. Retrieved 25 December 2018.
| Noonan syndrome | |
|---|---|
| Other names | Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome [1] |
|
| |
| A 12-year-old girl with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. | |
| Specialty | Medical genetics, pediatrics |
| Symptoms | Mildly unusual facial features, short height, congenital heart disease, bleeding problems, skeletal malformations [1] |
| Complications | Leukemia [1] |
| Usual onset | Present at birth [2] |
| Types | Type 1 to 6 [3] |
| Causes | Genetic mutation ( autosomal dominant) [1] |
| Diagnostic method | Suspected based on symptoms, confirmed with genetic testing [4] [2] |
| Differential diagnosis | Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] |
| Treatment | Based on the symptoms [3] |
| Medication | Growth hormone [3] |
| Prognosis | Depends on the severity of heart problems [3] |
| Frequency | 1 in 100 (1 in 2,000 severe disease) [4] |
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. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. [1] Heart problems may include pulmonary valve stenosis. [1] The breast bone may either protrude or be sunken, while the spine may be abnormally curved. [1] Intelligence is often normal. [1] Complications of NS can include leukemia. [1]
A number of genetic mutations can result in Noonan syndrome. [1] The condition may be inherited from a person's parents as an autosomal dominant condition or occur as a new mutation. [3] [1] Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves a problem with a cell signaling pathway. [1] The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. [2] [4] Confirmation may be achieved with genetic testing. [2] It can appear similar to Turner's syndrome. [5]
No cure for NS is known. [6] Treatment is based on the symptoms and underlying problems. [3] Extra support in school may be required. [3] Growth hormone therapy during childhood can increase an affected person's final height. [3] Long-term outcomes typically depend on the severity of heart problems. [3]
An estimated 1 in 100 people are mildly affected, while about 1 in 2,000 have a more severe form of the disease. [4] Males appear to be affected more often than females. [2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. [2]
- ^ a b c d e f g h i j k l m "Noonan syndrome". Genetics Home Reference. Archived from the original on 24 December 2018. Retrieved 24 December 2018.
- ^ a b c d e f g "Noonan Syndrome". NORD (National Organization for Rare Disorders). 2016. Archived from the original on 24 December 2018. Retrieved 24 December 2018.
- ^ a b c d e f g h i j "Noonan syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 19 October 2019. Retrieved 25 December 2018.
- ^ a b c d Bhambhani V, Muenke M (January 2014). "Noonan syndrome". American Family Physician. 89 (1): 37–43. PMC 4099190. PMID 24444506.
- ^ James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "27. Genodermatoses and congenital anomalies". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. p. 553. ISBN 978-0-323-54753-6. Archived from the original on 2022-04-19. Retrieved 2022-04-18.
- ^ "Noonan Syndrome - Children's Health Issues". Merck Manuals Consumer Version. Archived from the original on 25 December 2018. Retrieved 25 December 2018.