Talk:Noonan syndrome

From WikiProjectMed
Jump to navigation Jump to search

Article categorization

This article was categorized based on scheme outlined at WP:DERM:CAT. kilbad (talk) 22:37, 29 January 2009 (UTC)[reply]

Another potential image

Doc James (talk · contribs · email) 11:53, 24 December 2018 (UTC)[reply]

Planned changes to the page

To all wikipedians! We will be updating this article with expended information and references as part of a group assignment at Queen's medical school. We are open to feedback and suggestions through this process over the next month and hope this will be a useful resource for the world. Thank you! Alex Mosz (talk) 20:15, 11 November 2019 (UTC)[reply]

Causes - Proposed Additions:

"Phenotype (PTPN11): pulmonary stenosis more likely, hypertrophic cardiomyopathy less likely, short stature, pectus deformity, easy bruising, characteristic facial appearance." "Phenotype (RAF1): correlation with hypertrophic cardiomyopathy." "Phenotype (KRAS): correlation with hypertrophic cardiomyopathy." "Phenotype (SOS1): frequent occurrence of ectodermal abnormalities and a greater likelihood of normal development and stature in these individuals compared to others with NS." "LZTR1 Gene name in table; phenotype correlation: increased prevalence of hypertrophic cardiomyopathy in those with biallelic pathogenic variants." Additions above use the source: [1]. Hypertrophic cardiomyopathy is less common[2]

"Additionally, mutations in the SPRED1 gene have been associated with a neurofibromatosis-like disorder." [3]

Other changes: Linked Wikipedia page for LZTR1 to the table. "Causes" heading changed to "Cause" upon suggestion by physician tutor. OrangeZucchini (talk) 01:37, 19 November 2019 (UTC)[reply]

Prognosis - Proposed additions

"Noonan syndrome does not seem to impair an individual’s overall quality of life [4]. The majority of those with Noonan syndrome can expect to lead normal lives, however periodic follow up and lifelong monitoring of abnormalities found in any system, especially the cardiovascular system, is recommended [5][6]. The final adult height of individuals with Noonan syndrome is about 161-167cm in males and 150-155cm in females, which approaches the lower limit of normal [6]." Aidan Canil (talk) 19:49, 18 November 2019 (UTC)[reply]
The greatest contributor to mortality in individuals with Noonan syndrome is complications of cardiovascular disease[4][7]. Prognosis is therefore largely dependent on the presence or absence of cardiac disease, as well as the type and severity of the disease (if disease is present)[8]. Most notably, Noonan syndrome with hypertrophic cardiomyopathy is associated with increased mortality[4][7].
  1. ^ Allanson, JE; Roberts, AE; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Stephens, K; Amemiya, A (1993). "Noonan Syndrome". PMID 20301303. {{cite journal}}: Cite journal requires |journal= (help)
  2. ^ Turner, AM (October 2014). "Noonan syndrome". Journal of paediatrics and child health. 50 (10): E14-20. doi:10.1111/j.1440-1754.2010.01970.x. PMID 21771153.
  3. ^ Turner, AM (October 2014). "Noonan syndrome". Journal of paediatrics and child health. 50 (10): E14-20. doi:10.1111/j.1440-1754.2010.01970.x. PMID 21771153.
  4. ^ a b c "DynaMed". www.dynamed.com. Retrieved 2019-11-11. Cite error: The named reference ":1" was defined multiple times with different content (see the help page).
  5. ^ "Noonan syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice". bestpractice.bmj.com. Retrieved 2019-11-18.
  6. ^ a b Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-18
  7. ^ a b Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-17
  8. ^ Cite error: The named reference :0 was invoked but never defined (see the help page).
Wikieditor9584 (talk) 20:43, 18 November 2019 (UTC)[reply]
Thanks for sharing these. Please note how to add citations more than once in a paragraph or article (click "reuse" when adding your citation with the citation tool) rather than adding them twice. Great work so far!JenOttawa (talk) 18:18, 25 November 2019 (UTC)[reply]
Management - Proposed Addition:
"The treatment of Noonan syndrome varies greatly for people depending on resultant complications but tend to be quite standard, reflecting the treatment of the general population.[1] Management guidelines, divided by systems, including general, developmental, dental, growth and feeding, cardiovascular, audiological, haematological, renal and skeletal, that account for actions to be taken at diagnosis, after diagnosis and if symptomatic, have been published by an American consortium.[2]"
"Specifically, treatment of cardiovascular complications resemble that of the general population and treatment of bleeding diathesis is guided by the specific factor deficiency or platelet aggregation.[3]"
Anesthesia risk - Proposed Addition
"Although a few people with Noonan syndrome have been reported to develop malignant hyperthermia, the gene mutation of diseases known to be associated with malignant hyperthermia is different than that of Noonan syndrome.[4]
  1. ^ Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-13
  2. ^ Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). "Noonan syndrome". Lancet (London, England). 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X. ISSN 1474-547X. PMC 4267483. PMID 23312968.
  3. ^ Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-13
  4. ^ "Does Noonan Syndrome Increase Malignant Hyperthermia Susceptibility?". Malignant Hyperthermia Association of the United States. Retrieved 24 October 2014.
Naomigazendam (talk) 17:42, 18 November 2019 (UTC)"[reply]
Thanks for sharing these. Please note how to add citations more than once in a paragraph or article (click "reuse" when adding your citation with the citation tool) rather than adding them twice. Great work so far!JenOttawa (talk) 18:18, 25 November 2019 (UTC)[reply]
Signs and Symptoms - proposed changes
I will be adapting the writing of the section into paragraph form rather than bullet points to increase readability similar to other medical articles such as Rett Syndrome. Through this process I will be adding references for the heart, musculoskeletal and head sections. Alex Mosz (talk) 21:12, 18 November 2019 (UTC)[reply]
Thanks for sharing your idea for improving the article @Alex Mosz: do you mind sharing your exact new wording along with the references before editing? Looking great so far! JenOttawa (talk) 22:39, 18 November 2019 (UTC)[reply]
Proposed changes:
Note that I have taken the entire section, reordered the signs and symptoms to reflect the major diagnostic signs (facial phenotype and musculoskeletal features) at the start. I have added a statement about this before going into the details about each specific set of symptoms as divided by type (head, eyes, neuro, etc). I have taken each section and turned the information within which was previously bullet points into a paragraph. I have also added statements to clarify what is meant in some cases. This includes the statement om heart disease prevalence, and on spinal abnormalities requiring surgical intervention in a large proportion of patients, which was not mentioned previously. Finally, I removed a statement about joint pain and muscle pain in adults, as this statement was not supported by any of the secondary research I could see, and was only supported by relatively recent primary research papers, which is not in keeping with the Wikipedia manual of style for medical articles.

Physical appearance

The most common signs leading to the diagnosis of Noonan Syndrome are unique facial characteristics and musculoskeletal features. The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan Syndrome.[1]

Head

Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck.[1]

Eyes In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome.[1] This may be accompanied by epicanthal folds (extra fold of skin at the inner corner of the eye), ptosis (drooping of the eyelids), proptosis (bulging eyes), strabismus (inward or outward turning of the eyes), nystagmus (jerking movement of the eyes) and refractive visual errors.[1]

Nose

The nose may be small, wide, and upturned.[1]

Ears and hearing

The development of the ears and auditory system may be affected in people with Noonan’s syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.[citation needed]

Mouth and speech

Development of the mouth may also be affected in Noonan syndrome. This can result in deeply grooved philtrum (top lip line) (over 90%), micrognathia (undersized lower jaw), high arched palate, articulation difficulties (teeth don’t line up) which can lead to dental problems. Similar to the muscular manifestations above, in the mouth, poor tongue control may be observed.[citation needed]

Limbs/extremities

Abnormalities in the limbs and extremities may occur in Noonan syndrome. This may manifest as bluntly ended fingers, extra padding on fingers and toes, edema of the back of hands and tops of feet, and cubitus valgus (wide carrying angle of the elbows).[citation needed]

Skin

Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease.[citation needed]

Stature

For short stature, growth hormone is sometimes combined with IGF-1 (or as an alternative, IGF-1 as a stand-alone) can be used to achieve an increased height/final height quicker.[citation needed]

Musculoskeletal

Spinal abnormalities may be present up to 30% of the time and this may require surgery to correct in over 60% of these cases.[2] Other musculoskeletal manifestations in Noonan syndrome are associated with undifferentiated connective-tissue disorders which can be associated with joint contractures (tightness) or joint hypermobility (looseness).Additional factors may present in the form of winging of the scapula, scoliosis, breast bone prominence (pectus carinatum), breast bone depression (pectus excavatum).[1] Muscle abnormalities may present as hypotonia (low muscle tone) which may lead to lordosis (increased hollow in the back) due to poor abdominal muscle tone.[citation needed]

Heart

Noonan syndrome is the second most common syndromic cause of congenital heart disease and heart defects are observed in approximately 85% of people with NS.[2] This includes pulmonary valvular stenosis (50–60%), atrial septal defects (10–25%), ventricular septal defects (5–20%) and Hypertrophic cardiomyopathy (12–35%).[2]

Lungs

Restrictive lung function has been reported in some people.[citation needed]

Gastrointestinal tract

A number of diverse gastrointestinal (SI) symptoms have been associated with Noonan syndrome. These include swallowing difficulties, low gut motility, gastroparesis (delayed gastric emptying), intestinal malrotation, and frequent or forceful vomiting. These digestive issues may lead to decreased appetite, failure to thrive from infancy to puberty (75%), and occasionally the need for a feeding tube.[citation needed]

Genitourinary system

In some males with Noonan syndrome, testicles do not descend (Cryptorchidism).[citation needed]

Lymphatic system

Lymphatic anomalies including Posterior cervical hygroma (webbed neck) and Lymphedema may present in people with Noonan syndrome.[citation needed]

Blood

A number of bleeding disorders have been associated with Noonan Syndrome, these include platelet dysfunction, Blood clotting disorders, partial deficiency of factor VIII:C, partial deficiency of factor XI:C, partial deficiency of factor XII:C, and an imbalance of plasminogen activator inhibitor type-1 (PAI-1) and tissue plasminogen activator (t-PA) activity.[citation needed] It has been associated with Von Willebrand disease, Amegakaryocytic thrombocytopenia (low platelet count), prolonged activated partial thromboplastin time, combined coagulation defects. When present, these Noonan-syndrome accompanying disorders can be associated with a predisposition to bruise easily, or hemorrhage.[citation needed]

Neurological

Occasionally, Arnold-Chiari malformation (type 1),may occur, which can lead to hydrocephalus. Seizures have also been reported.[citation needed]

  1. ^ a b c d e f Romano, Alicia A.; Allanson, Judith E.; Dahlgren, Jovanna; Gelb, Bruce D.; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E.; Robinson, Wanda; Takemoto, Clifford M.; Noonan, Jacqueline A. (2010-10). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–759. doi:10.1542/peds.2009-3207. ISSN 1098-4275. PMID 20876176. {{cite journal}}: Check date values in: |date= (help)
  2. ^ a b c Roberts, Amy E.; Allanson, Judith E.; Tartaglia, Marco; Gelb, Bruce D. (2013-01-26). "Noonan syndrome". Lancet (London, England). 381 (9863): 333–342. doi:10.1016/S0140-6736(12)61023-X. ISSN 1474-547X. PMC 4267483. PMID 23312968.

Alex Mosz (talk) 23:37, 18 November 2019 (UTC)[reply]

Thanks for sharing this @Alex Mosz:. Great job with these suggestions. I have added citation needed tags and also added your citations by pasting the PMIDs into the citation tool (as demonstrated in class). If you need help with this when you are ready to edit please do not hesitate to reach out. I am not sure what here you wrote yourself and what you are just re-arranging to improve readability. Is there one citation for the whole section? If so, please re-use it for these sentences. I am happy to help in person on the 25th with this as well.JenOttawa (talk) 00:49, 19 November 2019 (UTC)[reply]


History

Proposed Edit to the History Section:

Dr. Jacqueline Noonan was practicing as a pediatric cardiologist at the University of Iowa when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis, often had a characteristic physical appearance, with short stature, webbed neck, wide spaced eyes, and low-set ears. Both boys and girls were affected. These characteristics were sometimes seen running in families but were not associated with gross chromosomal abnormalities. She studied 833 people with Noonan syndrome at the congenital heart disease clinic, looking for other congenital abnormalities, and in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease". This study described 9 children who in addition to congenital heart disease had characteristic facial features, chest deformities and short stature.[citation needed]

Dr. John Opitz, a former student of Dr. Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Dr. Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome.[1] In 1971 at the Symposium of Cardiovascular defects, the name 'Noonan syndrome' became officially recognized.[citation needed]

References

  1. ^ Noonan, Jacqueline A. (1968-10-01). "Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease". American Journal of Diseases of Children. 116 (4): 373. doi:10.1001/archpedi.1968.02100020377005. ISSN 0002-922X.

Changes by: Veeral Desai (RSA97) RSA97 (talk • contribs) 02:10, 19 November 2019 (UTC)[reply]

Thanks for sharing this. You can repeat the same citation in the text by clicking "re-use" when adding the citation with the doi. Sorry about my last edit. I got bumped and then could not get back on to fix it. You were correct, no need to share the rest of assignment #3. Thank you again, JenOttawa (talk) 02:23, 19 November 2019 (UTC)[reply]

Diagnosis

Proposed changes to Diagnosis

- Change "Ultrasound" subsection to "Prenatal Diagnosis"

- Remove "First-trimester ultrasound of Noonan syndrome may reveal nuchal edema or cystic hygroma similar to Turner syndrome."

- Add "Prenatal diagnosis of Noonan Syndrome is guided by features including cystic hygroma, increased nuchal translucency, pleural effusion, and edema. More specifically, Noonan Syndrome diagnosis happens in 1-3% of cases of first trimester nuchal edema, and <10% of cases of second trimester cystic hygroma.[1]"

- Remove "Follow-up scans may show clinical features as described above. A study shows this disease is also associated with hepatosplenomegaly and with kidney anomalies including malrotation and a solitary kidney. A rare case of choledochal cysts is also reported."

References

  1. ^ Roberts, AE; Allanson, JE; Tartaglia, M; Gelb, BD (26 January 2013). "Noonan syndrome". Lancet (London, England). 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.

Paradise376 (talk) 03:58, 19 November 2019 (UTC)[reply]


Differential diagnosis

Proposed changes to Differential Diagnosis Section

Turner Syndrome

While there are similarities between the two (renal anomalies, developmental delay), Turner syndrome is only found in females and often expresses differently. In Turner Syndrome, there is a lower incidence of developmental delays, left-sided heart defects are constant and the occurrence of renal abnormalities is much lower.[1]

Hi, is this the most recent source you can find here? I wonder if you can re-use some of your other review articles (if they share the same info)?JenOttawa (talk) 22:47, 24 November 2019 (UTC)[reply]

Watson Syndrome

Watson Syndrome has a number of similar characteristics with Noonan’s Syndrome such as short stature, pulmonary valve stenosis, variable intellectual development, and skin pigment changes.[2]


CFC syndrome is very similar to Noonan’s Syndrome due to similar cardiac and lymphatic features. However, In CFC syndrome intellectual disability and gastrointestinal problems are often more severe and pronounced.[3][1]

Costello syndrome

Like CFC syndrome, Costello syndrome has overlapping features with Noonan’s Syndrome. However, the conditions can be distinguished by their genetic cause.[4][5]

Other

Noonan’s Syndrome can be confused with other syndromes/conditions due to similar phenotypic expressions (short stature, congenital heart defects, and distinctive features)

  • Neurofibromatosis 1 (NF1)[6]
  • Williams syndrome[7]
Hi, this sources is also very old. Can it be replaced by the more recent review (if that review also shares this info)?JenOttawa (talk) 22:47, 24 November 2019 (UTC)[reply]
  • Fetal Alcohol Syndrome

References

  1. ^ a b Allanson, Judith E.; Roberts, Amy E. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-24
  2. ^ Allanson, J. E.; Upadhyaya, M.; Watson, G. H.; Partington, M.; MacKenzie, A.; Lahey, D.; MacLeod, H.; Sarfarazi, M.; Broadhead, W.; Harper, P. S. (1991-11). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". Journal of Medical Genetics. 28 (11): 752–756. doi:10.1136/jmg.28.11.752. ISSN 0022-2593. PMC 1017110. PMID 1770531. {{cite journal}}: Check date values in: |date= (help)
  3. ^ Armour, C. M.; Allanson, J. E. (2008-04). "Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations". Journal of Medical Genetics. 45 (4): 249–254. doi:10.1136/jmg.2007.054460. ISSN 1468-6244. PMID 18039946. {{cite journal}}: Check date values in: |date= (help)
  4. ^ Kerr, B.; Delrue, M.-A.; Sigaudy, S.; Perveen, R.; Marche, M.; Burgelin, I.; Stef, M.; Tang, B.; Eden, O. B.; O'Sullivan, J.; De Sandre-Giovannoli, A. (2006-05). "Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases". Journal of Medical Genetics. 43 (5): 401–405. doi:10.1136/jmg.2005.040352. ISSN 1468-6244. PMC 2564514. PMID 16443854. {{cite journal}}: Check date values in: |date= (help)
  5. ^ Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; Zackai, Elaine H.; Lapunzina, Pablo; Gonzalez-Meneses, Antonio (2006-01-01). "HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation". American Journal of Medical Genetics Part A. 140A (1): 1–7. doi:10.1002/ajmg.a.31047. ISSN 1552-4825.
  6. ^ Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; de Oliveira, Paulo S.L.; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo (2005-07-30). "Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient". American Journal of Medical Genetics Part A. 136A (3): 242–245. doi:10.1002/ajmg.a.30813. ISSN 1552-4825.
  7. ^ Morris, Colleen A. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Williams Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301427, retrieved 2019-11-24

RSA97 (talk) 05:32, 24 November 2019 (UTC)[reply]

Thanks for sharing these @RSA97:. I re-added your references using the PMIDs/DOIs with the tool. Please be sure to add them each time using the tool when you edit Wikipedia live. I see that you did a good job doing this in your sandbox, it just looked like this because you pasted it over from your sandbox (which is no problem!). Finally, are these all new sources that you chose? Many are very old. I do not have any background in Noonan syndrome so I am not familiar with the evidence base. Are there any more recent sources available? Remember, it does not have the be the very first source that mentions something, a recent review that summarizes an older study or systematic review is great for Wikipedia. Thank you!JenOttawa (talk) 22:52, 24 November 2019 (UTC)[reply]

Unsourced changes

The following changes by ShamsiSide.up do not cite any references:

Please add WP:MEDRS. Leyo 22:36, 16 November 2023 (UTC)[reply]

Thanks, done ✅ ShamsiSideUp (talk) 21:09, 17 November 2023 (UTC)[reply]
Retrieved from "https://mdwiki.org/wiki/Talk:Noonan_syndrome"