obsolete Noonan syndrome 2

Noonan Syndrome 2 (Saldino-Noonan Syndrome)

Noonan Syndrome 2, also known as Saldino-Noonan Syndrome or pseudo-Morquio syndrome type 2, is a rare genetic disorder characterized by short ribs with an extremely narrow thorax and very short limbs [2]. This condition is considered a ciliopathy, which means it affects the development of cilia, tiny hair-like structures on cells that play a crucial role in various cellular processes.

Key Features

• Short ribs with an extremely narrow thorax
• Very short limbs
• Rare genetic disorder

Prevalence and Impact

Noonan Syndrome 2 is a rare condition, and its exact prevalence is not well-documented. However, it is considered to be one of the many forms of Noonan syndrome, which affects multiple parts of the body [5].

References

[1] Not applicable (this information was not present in the search results)

[2] Saldino-Noonan Syndrome, also known as pseudo-Morquio syndrome type 2

[3] Not applicable (this information was not present in the search results)

[4] Not applicable (this information was not present in the search results)

[5] GARD Definition: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body.

[6] Not applicable (this information was not present in the search results)

[7] Not applicable (this information was not present in the search results)

[8] Not applicable (this information was not present in the search results)

[9] Not applicable (this information was not present in the search results)

[10] A case of Noonan's syndrome in a 6—year—old boy is presented in which xantho— mas of the skin and tongue were an additional, not previously reported, feature.

Based on the provided context, it appears that you are looking for information on the signs and symptoms of an outdated or obsolete version of Noonan syndrome.

Characteristics of Obsolete Noonan Syndrome:

• Distinctive facial features (typically, hypertelorism, ptosis, and low-set ears) [4]
• Short stature [2, 3, 5, 7]
• Chest deformity [2, 5]
• Congenital heart disease [2, 3, 5]

Other Possible Symptoms:

• Slow growth [6]
• Mental retardation (now referred to as intellectual disability) [6]
• Structural heart abnormalities [6]
• Abnormal bone development [6]

Please note that the term "obsolete" is used here to refer to an outdated or superseded version of Noonan syndrome, rather than a condition that is no longer present in modern medicine. The characteristics listed above may still be relevant for individuals with Noonan syndrome today.

References: [2] - Short stature and chest deformity are characteristic findings. [3] - Patients display typical face, cardiac abnormalities, chest deformities, and short stature. [4] - Facial characteristics include hypertelorism, ptosis, and low-set ears. [5] - Characteristic findings include distinctive facial features, short stature, chest deformity, and congenital heart disease. [6] - Noonan syndrome is characterized by slow growth, short stature, mental retardation, peculiar facial features, structural heart abnormalities, and abnormal bone development. [7] - Short stature, typical facial dysmorphology, and congenital heart defects are characteristic of Noonan syndrome.

Based on the available information, it appears that there are no specific diagnostic tests mentioned for "obsolete" Noonan syndrome 2. However, I can provide some general information about diagnostic tests for Noonan syndrome.

• Gene-targeted testing: This type of testing is likely used to diagnose individuals with distinctive findings associated with Noonan syndrome (see [2]). Gene-targeted testing involves analyzing specific genes associated with the condition.
• Next-generation sequencing: This test is used to detect single nucleotide and copy number variants in 20 genes associated with Noonan syndrome and related conditions (see [3]).
• Blood tests: Blood tests may be performed to assess various aspects of health, including platelet count, blood clotting factor levels, and hearing function (see [8]).

It's worth noting that the term "obsolete" is not explicitly mentioned in the provided context. However, based on the information available, it seems that gene-targeted testing and next-generation sequencing are more relevant to diagnosing Noonan syndrome than any specific diagnostic tests for an "obsolete" version of the condition.

References: [2] Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1) ... [3] This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 20 genes associated with Noonan syndrome and related ...

Based on the provided context, it appears that there are some outdated information regarding drug treatment for Noonan Syndrome 2.

According to search result [9], one of the options for symptomatic treatment of NS (which includes Noonan Syndrome 2) is recombinant human growth hormone (rhGH). However, this information might be outdated as it was published in 2020.

It's also worth noting that search result [5] mentions growth hormone therapy as a potential treatment option for Noonan syndrome, but it does not specifically mention Noonan Syndrome 2.

However, I couldn't find any specific information on drug treatment for Noonan Syndrome 2. It seems that the current management guidelines focus more on symptomatic treatment and coordinated team approach rather than specific drug treatments (search result [11]).

If you're looking for up-to-date information on drug treatment for Noonan Syndrome 2, I would recommend consulting a medical professional or a reliable health resource.

Here are some potential treatment options that were found in the context:

• Recombinant human growth hormone (rhGH) - [9]
• Growth hormone therapy - [5]

Please note that these might not be specific to Noonan Syndrome 2 and might be outdated.

Understanding Differential Diagnosis in the Context of Noonan Syndrome

The differential diagnosis for Noonan syndrome, a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects, involves distinguishing it from other syndromes that share similar clinical features. According to various medical sources [8][9], the differential diagnosis includes:

• Williams-Beuren Syndrome (OMIM #194050): This syndrome is characterized by a distinctive "elfin" face, intellectual disability, and cardiovascular abnormalities [Allanson, 1987; Morris, 1993].
• Costello Syndrome: This rare genetic disorder presents with facial dysmorphia, short stature, and congenital heart defects, among other features [6].
• LEOPARD Syndrome: A genetic disorder characterized by multiple lentigines (skin spots), electrocardiographic conduction abnormalities, ocular hyperlenticonus, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness [7].
• Neurofibromatosis Type 1: A genetic disorder that causes tumors to form on nerve tissue, leading to various symptoms including skin changes, bone deformities, and intellectual disability [12].

Key Considerations in Differential Diagnosis

When attempting to diagnose Noonan syndrome, it is essential to consider the following factors:

• Genetic Testing: Molecular genetic testing can aid in differentiating NS from other syndromes by identifying specific gene mutations associated with each condition.
• Clinical Features: A thorough examination of clinical features such as facial dysmorphia, short stature, and congenital heart defects is crucial for accurate diagnosis.
• Age of Diagnosis: Early diagnosis of Noonan syndrome can be challenging, with reports showing an average age of diagnosis of 9 years [13].

References

[8] - Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may also involve other features such as bleeding