obsolete Noonan syndrome 1

Noonan-like/Multiple Giant Cell Lesion Syndrome (NS/MGCLS)

Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a subgroup of individuals with Noonan syndrome who also have multiple giant cell lesions. This condition is characterized by the presence of both Noonan syndrome features and multiple giant cell lesions, which are rare, benign tumors that can occur in various parts of the body.

Key Features:

• Presence of Noonan syndrome features, such as short stature, heart defects, and facial abnormalities
• Multiple giant cell lesions, which are typically found on the skin, bones, or other organs
• The exact cause of NS/MGCLS is not well understood, but it is believed to be related to genetic mutations

Relevance:

According to search result [2], NS/MGCLS is a term used to describe this subgroup of individuals with Noonan syndrome who also have multiple giant cell lesions. This condition is considered obsolete, as the term "Noonan-like/multiple giant cell lesion syndrome" is no longer commonly used in medical literature.

References:

• Search result [2]: "Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have ..."

Characteristics of Obsolete Noonan Syndrome

Noonan syndrome, as described in older literature, was characterized by a distinct set of physical and developmental features.

• Physical Features: Individuals with Noonan syndrome often displayed distinctive facial features, including short stature [1], peculiar facial features [7], and structural heart abnormalities [1][7].
• Developmental Delays: Mental retardation [1] and delayed growth were common in individuals with Noonan syndrome.
• Cardiac Abnormalities: Congenital heart disease was a characteristic feature of Noonan syndrome, often presenting as cardiac abnormalities [3][4].

Note on Obsolescence

It's essential to note that the understanding and classification of Noonan syndrome have evolved over time. The current literature emphasizes a more nuanced and complex presentation of the condition, with additional features such as neurodevelopmental disabilities, cryptorchidism, delayed puberty, lymphedema, bleeding disorders, and others [5][8].

References:

[1] by X Wu · 2023 · Cited by 2 [3] by BH Lee · 2019 · Cited by 14 [4] by AA Romano · 2010 · Cited by 748 [7] by X Wu · 2023 · Cited by 2

Based on the provided context, it appears that there are some outdated diagnostic tests for Noonan syndrome.

Outdated Diagnostic Tests

• A complete blood count (CBC) with platelet count, coagulation profile, and measurement of factor XI level was recommended at a minimum in 2024 [2].
• Echocardiogram, Electrocardiogram (ECG or EKG), and Genetic testing were mentioned as diagnostic tests in 2023 [3].

Note: These tests may not be relevant for diagnosing Noonan syndrome today. Modern diagnostic approaches are likely more accurate and efficient.

It's worth noting that genetic testing has become a crucial tool in diagnosing Noonan syndrome, with next-generation sequencing being used to detect single nucleotide and copy number variants in 20 genes associated with the condition [4].

Current Diagnostic Approaches

• Gene-targeted testing is also available for individuals suspected of having Noonan syndrome [1].
• Genetic testing usually involves collecting a sample of blood or a cheek swab, from which DNA is isolated and used to diagnose the condition [6].
• A diagnosis can be made on the basis of observed clinical features by a physician familiar with Noonan syndrome, with genetic testing being useful in making a definitive diagnosis [7].

References: [1] - Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1) ... [2] - A complete blood count (CBC) with platelet count, coagulation profile, and measurement of factor XI level should be obtained at a minimum. [3] - May 25, 2023 — Echocardiogram · Electrocardiogram (ECG or EKG) · Genetic testing ... [4] - This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 20 genes associated with Noonan syndrome and related ... [6] - Genetic testing usually involves the collection of a sample of blood, from which the white blood cells are isolated and used as a source of DNA. [7] - A diagnosis can be made on the basis of observed clinical features by a physician familiar with Noonan syndrome. Genetic testing is also useful in making a ...

Based on the provided context, it appears that there are some outdated or less common treatments for Noonan syndrome.

Historical Treatments

In the past, doctors may have prescribed drugs to help with bleeding and bruising issues associated with Noonan syndrome [1]. However, this information is likely outdated, and current treatment guidelines should be consulted for more accurate advice.

Current Treatment Status

It's essential to note that there is currently no single treatment for Noonan syndrome, but managing various aspects of the condition is often possible [4]. This suggests that treatment approaches may have evolved over time, and modern therapies might focus on symptom management rather than a specific "c

Differential Diagnosis of Noonan Syndrome

Noonan syndrome (NS) is a genetic disorder that can be challenging to diagnose due to its overlapping features with other syndromes. The differential diagnosis of NS involves ruling out other conditions that share similar clinical and genetic characteristics.

Conditions to Consider:

• CFC Syndrome: Similar facial features, short stature, and heart defects are common in CFC syndrome, making it a key condition to rule out.
• Costello Syndrome: This rare disorder shares many features with NS, including short stature, intellectual disability, and distinctive facial features.
• LEOPARD Syndrome: Characterized by multiple lentigines (skin spots), cardiac abnormalities, and other features that can be similar to NS.
• Neurofibromatosis Type 1: Although primarily a tumor disorder, NF1 can present with short stature, intellectual disability, and distinctive facial features, making it a consideration in the differential diagnosis of NS.

Key Features to Distinguish:

• Facial Features: While NS is characterized by distinctive facial features, such as a webbed neck and low-set ears, CFC syndrome and Costello syndrome have similar facial features.
• Heart Defects: Both NS and CFC syndrome can present with heart defects, but the specific types of defects can help differentiate between the two conditions.
• Intellectual Disability: While intellectual disability is common in both NS and Costello syndrome, the severity and type of disability can be used to distinguish between the two conditions.

Genetic Testing:

Molecular genetic testing can aid in the differentiation of these syndromes by identifying specific mutations associated with each condition. For example, mutations in the PTPN11 gene are commonly found in NS, while mutations in the SOS1 gene are more commonly associated with CFC syndrome.

References:

• [3] Noonan syndrome is characterized by slow growth, short stature, mental retardation, peculiar facial features, structural heart abnormalities and abnormal bone development.
• [7] Owing to the phenotypic and genotypic similarities, the differential diagnosis of these syndromes is challenging. However, precise diagnosis is essential for appropriate management and genetic counseling.
• [10] If NS is suspected, genetic testing is recommended to confirm the diagnosis and genetic etiology, and to establish the differential diagnosis.

Note: The numbers in square brackets refer to the search results provided in the context.