obsolete Noonan syndrome 3

Obsolete Description of Noonan Syndrome

Noonan syndrome, as described in [3] (June 2014), is a genetic disorder characterized by various physical and developmental abnormalities. The condition was previously known to have a high percentage of affected individuals with cardiovascular involvement ([1], 2020).

Some key features of the obsolete description of Noonan syndrome include:

• Approximately 50% of cases having a missense mutation in the PTPN11 gene
• 10-15% of cases having a missense mutation in the SOS1 gene
• 3-17% of cases having a missense mutation in the RAF1 gene

These genetic mutations were previously associated with Noonan syndrome, but it is essential to note that the condition has been further characterized and updated since then.

References:

[1] by L Linglart · 2020 · Cited by 122 [3] Jun 30, 2014

Based on the provided context, here are the signs and symptoms of Noonan syndrome:

Physical Characteristics

• Hypertelorism (abnormally wide-set eyes) [1]
• Eyelid ptosis (drooping eyelids) [1]
• Short neck [1]
• Short stature [1, 3, 5, 7]
• Cognitive delays [1]

Facial Features

• Low set of ears [5]
• Downward eyeslant and epicathic fold [5]
• Peculiar facial features [2, 6]
• Facial dysmorphology (abnormal facial structure) [5, 7]

Other Symptoms

• Congenital heart defects [3, 5, 7]
• Chest deformity [4]
• Growth failure [5]
• Mental retardation (now known as intellectual disability) [2, 6]
• Abnormal bone development [6]

Please note that these symptoms may vary in severity and presentation from person to person. Additionally, some of these symptoms may be less noticeable or even absent in older individuals with Noonan syndrome.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Based on the provided context, it appears that there are specific diagnostic tests for Noonan syndrome 3.

• The Clinical Genetic Test offered by Intergen is mentioned as a test for conditions including Noonan syndrome 3 [4].
• This test includes genetic testing of the KRAS gene, which is associated with Noonan syndrome 3 [4].

It's worth noting that the context also mentions that all patients with Noonan syndrome should be evaluated to determine which disease manifestations they display [3]. However, it does not specifically mention diagnostic tests for Noonan syndrome 3.

Therefore, based on the available information, the Clinical Genetic Test offered by Intergen is a relevant diagnostic test for Noonan syndrome 3.

Based on the provided context, it appears that there are some outdated information regarding drug treatment for Noonan syndrome.

According to search result [3], a randomized, double-blind, multicenter trial from Japan (Sep 30, 2024) suggests that growth hormone may be used to treat short stature associated with Noonan syndrome. However, this information is dated and might not reflect the current standard of care.

It's worth noting that there are no specific details on other drug treatments for Noonan syndrome in the provided context. The most recent information available (search result [3], Sep 30, 2024) only mentions growth hormone as a potential treatment option.

If you're looking for more up-to-date information on drug treatment for Noonan syndrome, I'd be happy to try and search again or provide more general information on the topic.

Based on the provided context, the differential diagnosis for Noonan Syndrome (NS) includes:

• Turner syndrome (45, XO)
• Cardiofaciocutaneous (CFC) syndrome
• Costello syndrome
• LEOPARD syndrome
• Neurofibromatosis type 1

These conditions share similar phenotypic and genotypic features with NS, making differential diagnosis challenging. However, precise diagnosis is crucial for proper management and treatment.

According to [3], Table 2 lists the differential diagnoses of Noonan syndrome, which includes these conditions. Additionally, molecular genetic testing can aid in differentiating NS from other syndromes, such as CFC syndrome, Costello syndrome, LEOPARD syndrome, neurofibromatosis type 1, and others.

It's worth noting that the prevalence of these differential diagnoses varies, with some being more common than others. For example, Turner syndrome is a relatively common condition, while Costello syndrome is much rarer [10].

References: [3] QA Khan (2024) [10] Jun 30, 2014