obsolete Noonan syndrome 5

Syndromic Outer Canthal Malposition in Obsolete Noonan Syndrome

Obsolete Noonan syndrome, also known as syndromic outer canthal malposition, is a rare genetic disorder characterized by facial anomalies and other systemic features. This condition was previously considered to be part of the Noonan syndrome spectrum, but it has since been reclassified.

Key Features:

• Facial anomalies suggestive of Noonan syndrome
• Loose anagen hair
• Frequent congenital heart defects
• Other systemic features may include lymphedema and developmental delays

It's worth noting that the term "obsolete" in this context refers to the fact that this condition is no longer considered a distinct entity within the Noonan syndrome spectrum. Instead, it is now recognized as a variant of other conditions.

References:

• [5] - This search result mentions syndromic outer canthal malposition as a feature of obsolete Noonan syndrome.
• [3] - This search result provides additional information on the facial anomalies and loose anagen hair associated with this condition.

Characteristics of Obsolete Noonan Syndrome

Noonan syndrome, as described in [5] (2010), presents with several distinct features that are now considered obsolete or less common. These include:

• Distinctive facial features: Characterized by a flat nose bridge, which is no longer considered a primary symptom.
• Short stature: Individuals with Noonan syndrome often experience slow growth and short stature, but this is not unique to the condition.
• Chest deformity: A congenital heart disease was mentioned in [5] (2010), but it's essential to note that modern understanding of Noonan syndrome has expanded beyond these initial findings.

Evolution of Understanding

It's crucial to acknowledge that medical knowledge and diagnostic criteria for Noonan syndrome have evolved significantly since the publication in [5] (2010). The current understanding of the condition encompasses a broader range of symptoms, including those mentioned in more recent sources ([6], [7], [8], [9], and [10]).

Modern Understanding

In contrast to the obsolete characteristics described in [5] (2010), modern Noonan syndrome is characterized by:

• Short stature
• Congenital heart defects
• Peculiar facial features
• Mental retardation (now referred to as intellectual disability)
• Structural abnormalities and abnormal bone development

These symptoms are more

Based on the provided context, it appears that there are diagnostic tests available for Noonan syndrome, but some of them may be considered obsolete.

According to search result [3], it is mentioned that "EXPLANATION: This test will become obsolete on February 2, 2017." However, this information does not provide any specific details about the diagnostic tests themselves.

Search result [5] mentions "Diagnostic Tests" but does not provide any further information. It requires login or registration to see the diagnostic information.

However, search result [4] states that "If NS is suspected, genetic testing is recommended to confirm the diagnosis and genetic etiology, and to establish the differential diagnosis." This suggests that genetic testing may be a relevant diagnostic test for Noonan syndrome.

It's also worth noting that search result [7] mentions that "Genetic tests cannot be 100% diagnostic of ...", which implies that there may be limitations or uncertainties associated with certain diagnostic tests.

In summary, while some diagnostic tests for Noonan syndrome may be considered obsolete, genetic testing appears to be a relevant and recommended approach for confirming the diagnosis. However, more information would be needed to provide a comprehensive answer.

• Relevant diagnostic tests:
  • Genetic testing (search result [4])
• Limitations or uncertainties associated with certain diagnostic tests:
  • Genetic tests cannot be 100% diagnostic of ... (search result [7])

Medications for Short Stature Associated with Noonan Syndrome

According to recent research, there are several medications that can be used to treat short stature associated with Noonan syndrome.

• Genotropin Cartridge: This medication is a growth hormone that can help improve height in individuals with Noonan syndrome.
• Genotropin Syringe: Similar to the cartridge, this syringe contains growth hormone and can be used to treat short stature associated with Noonan syndrome.
• Norditropin FlexPro Pen Injector: This pen injector is a type of growth hormone that can help improve height in individuals with Noonan syndrome.
• Norditropin: This medication is also a growth hormone that can be used to treat short stature associated with Noonan syndrome.

These medications have been found to be effective in improving height and overall quality of life for individuals with Noonan syndrome. However, it's essential to consult with a healthcare professional before starting any new treatment regimen.

References: * [5] - This search result mentions 5 medications found for 'short stature associated with noonan syndrome', which includes the above-mentioned medications. * [8] - This search result also mentions growth hormone therapy as a treatment option for Noonan syndrome, which is consistent with the medications listed above.

Based on the provided context, the differential diagnosis for obsolete Noonan syndrome includes:

• Turner syndrome (45, XO)
• Cardiofaciocutaneous (CFC) syndrome
• Costello syndrome
• Williams-Beuren syndrome (OMIM #194050)

These conditions share similar phenotypic manifestations with Noonan syndrome, making differential diagnosis challenging. [5][12]

In particular, the mutable manifestation of NS-symptoms determines a diagnostic challenge, and features such as typical facial features, heart and skeletal anomalies, and variable cognitive/affective characteristics are common to all these conditions. [13]

It's worth noting that precise diagnosis is often difficult due to phenotypic and genotypic similarities among these syndromes. [8]