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obsolete Noonan syndrome 9
Description
Obsolete Description of Noonan Syndrome
Noonan syndrome, as described in context [7], was previously associated with a 9-year-old male who carried the diagnosis of this condition. However, it's essential to note that this description is now considered outdated.
According to more recent findings (context
Additional Characteristics
- Noonan syndrome was previously associated with a 9-year-old male
- This description is now considered outdated
Signs and Symptoms
Noonan Syndrome (Obsolete): Signs and Symptoms
Noonan syndrome, as described in older literature, presents with a range of physical and developmental characteristics. Some of the notable signs and symptoms include:
- Delayed puberty: Individuals with Noonan syndrome may experience delayed onset of puberty.
- Down-slanting or widely-spaced eyes: The eyes are often characterized by a downward slant or wide spacing, which can be a distinctive feature.
- Hearing loss (varies): Hearing impairment can occur in individuals with Noonan syndrome, although the severity and impact may vary.
- Low-set or abnormally shaped ears: The ears may appear low-set or have an abnormal shape, contributing to the overall facial characteristics.
- Mild intellectual disability: Some individuals with Noonan syndrome may experience mild cognitive impairments.
It's essential to note that these symptoms are based on outdated literature and may not accurately reflect the current understanding of Noonan syndrome. Modern research has led to a more comprehensive understanding of the condition, which includes additional features and complexities.
References: [9] Mar 31, 2024 — Symptoms · Delayed puberty · Down-slanting or widely-spaced eyes · Hearing loss (varies) · Low-set or abnormally shaped ears · Mild intellectual ...
Additional Symptoms
- Delayed puberty
- Mild intellectual disability
- Down-slanting or widely-spaced eyes
- Hearing loss (varies)
- Low-set or abnormally shaped ears
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests that were once used to diagnose Noonan syndrome, but may be considered obsolete or less commonly used today.
According to search result [9], a diagnosis can be made on the basis of observed clinical features by a physician familiar with Noonan syndrome. However, genetic testing is also useful in making a diagnosis.
Additionally, search result [8] lists several diagnostic tests that were once used to diagnose Noonan syndrome, including:
- Complete blood count (CBC)
- Chest X-ray
- CT scan
- Echocardiogram
- Electrocardiogram (EKG)
- Genetic tests
- Ultrasound
However, it's worth noting that these tests may not be as commonly used today, and genetic testing is likely to be the preferred method of diagnosis.
Diagnostic Tests for Obsolete Noonan Syndrome:
- Complete blood count (CBC) [8]
- Chest X-ray [8]
- CT scan [8]
- Echocardiogram [8]
- Electrocardiogram (EKG) [8]
- Ultrasound [8]
These tests may still be used in certain cases, but genetic testing is likely to be the preferred method of diagnosis.
References:
[8] - List of diagnostic tests for Noonan syndrome [9] - Diagnostic criteria for Noonan syndrome
Additional Diagnostic Tests
- Chest X-ray
- Ultrasound
- CT scan
- Complete blood count (CBC)
- Echocardiogram
- Electrocardiogram (EKG)
Treatment
Current Drug Treatments for Noonan Syndrome
While there is no single treatment for Noonan syndrome, various medications have been used to manage its symptoms and associated conditions. According to recent research [8], growth hormone (GH) has been used to accelerate growth in some patients with the disorder, leading to near-adult height.
- Growth hormone therapy may be beneficial for individuals with short stature associated with Noonan syndrome [3].
- A randomized, double-blind, multicenter trial from Japan demonstrated the effectiveness of GH in treating short stature in patients with Noonan syndrome [3].
Other Potential Treatments
Researchers have also explored other potential treatments for Noonan syndrome. For example:
- MEK inhibitors, such as trametinib, have shown promise in reversing hypertrophic cardiomyopathy and valvular obstruction in patients with RIT1-associated NS [5].
- The combination of GH and low-dose estrogen may improve growth and adult height, as well as provide neurocognitive and behavioral benefits [7].
Important Considerations
It is essential to consult healthcare professionals before starting any medication regimen. They can help weigh the risks and benefits of each treatment option and make informed decisions about care.
References:
[3] Sep 30, 2024 — Growth hormone may be used to treat short stature associated with Noonan syndrome. [5] Researchers show that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy and valvular obstruction in patients with RIT1-associated NS. [7] by EM Chacko · 2012 · Cited by 19 — The combination of hGH and low-dose estrogen may also improve growth and adult height as well as possibly provide neurocognitive and behavioral benefits.
Recommended Medications
- Growth hormone
- trametinib
- estrogen
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Noonan Syndrome
Noonan syndrome (NS) can be challenging to diagnose due to its phenotypic and genotypic similarities with other syndromes. Here are some conditions that may be considered in the differential diagnosis of NS:
- CFC syndrome: This condition is characterized by similar facial features, short stature, and congenital heart defects.
- Costello syndrome: This rare genetic disorder also presents with facial dysmorphia, short stature, and cardiac abnormalities.
- LEOPARD syndrome: A genetic disorder that affects multiple systems of the body, including the skin, eyes, heart, and other organs.
- Neurofibromatosis type 1 (NF1): This condition is characterized by café-au-lait spots, neurofibromas, and other systemic features.
According to [8], Noonan syndrome can be differentiated from these conditions through precise diagnosis using molecular genetic testing. Additionally, the distinctive facial features of NS may aid in its identification.
It's worth noting that the differential diagnosis of NS is a complex process that requires careful consideration of multiple factors. A thorough medical evaluation and genetic testing are essential for accurate diagnosis and management of this condition.
Additional Differential Diagnoses
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070109
- core#notation
- DOID:0070109
- oboInOwl#hasExactSynonym
- NS9
- IAO_0000115
- A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3.
- rdf-schema#label
- obsolete Noonan syndrome 9
- owl#deprecated
- true
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1981
- owl#annotatedSource
- t345309
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