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obsolete Noonan syndrome 10
Description
Obsolete Test for Noonan Syndrome
The test described in search result #10 appears to be an outdated diagnostic tool for Noonan syndrome. According to the information provided, this test will become obsolete on February 2, 2017.
- Reason for Obsolescence: The test is no longer recommended due to its outdated nature.
- Recommended Alternative Tests: The alternative tests suggested are the Noonan Syndrome and Related Disorders Multi-Gene Panel, which may provide more accurate and up-to-date diagnostic information.
It's essential to note that medical testing and diagnosis evolve over time, and older tests may become obsolete as new technologies and research emerge. In this case, the test described in search result #10 is no longer recommended for use.
References:
- Search result #10
Additional Characteristics
- The test described in search result #10 appears to be an outdated diagnostic tool for Noonan syndrome.
- Reason for Obsolescence: The test is no longer recommended due to its outdated nature.
- Recommended Alternative Tests: The alternative tests suggested are the Noonan Syndrome and Related Disorders Multi-Gene Panel, which may provide more accurate and up-to-date diagnostic information.
Signs and Symptoms
I couldn't find any information on "obsolete Noonan syndrome 10". However, I can provide you with the signs and symptoms of Noonan syndrome based on the search results.
Common Signs and Symptoms:
- Short stature [1]
- Distinctive facial features [2], [4]
- Chest deformity [2], [4]
- Congenital heart disease [2], [4]
- Delayed puberty [5], [6]
- Down-slanting or widely-spaced eyes [5]
- Hearing loss (varies) [9]
Additional Extracardiac Features:
- Neurodevelopmental disabilities [6]
- Cryptorchidism [6]
- Lymphedema [6]
- Bleeding disorders [6]
- Abnormal bone development [8], [9]
Additional Symptoms
- Cryptorchidism
- Delayed puberty
- Distinctive facial features
- Congenital heart disease
- Lymphedema
- Chest deformity
- Abnormal bone development
- Down-slanting or widely-spaced eyes
- Hearing loss (varies)
- Neurodevelopmental disabilities
- bleeding
- short stature
Diagnostic Tests
Diagnostic Tests for Obsolete Noonan Syndrome
Noonan syndrome, as mentioned in [7], has been diagnosed using various diagnostic tests over the years. While some of these tests may be considered obsolete today, they were once used to help identify the condition. Here are some of the diagnostic tests that have been used in the past:
- Complete Blood Count (CBC): A CBC with platelet count, coagulation
Additional Diagnostic Tests
- Complete Blood Count (CBC)
- Platelet count
- Coagulation studies
Treatment
Based on the provided context, it appears that there isn't a specific search result for "Drug Treatment of obsolete Noonan syndrome 10". However, I can provide information on the general treatment options for Noonan syndrome.
- There's currently no single treatment for Noonan syndrome, but it's often possible to successfully manage many aspects of the condition [4].
- Growth hormone may be used to treat short stature associated with Noonan syndrome [3].
- Researchers have shown that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy and valvular obstruction in patients with RIT1-associated NS [5].
It's worth noting that the treatment options for Noonan syndrome are still evolving, and more research is needed to fully understand the condition and develop effective treatments.
If you're looking for information on a specific aspect of Noonan syndrome or its treatment, please let me know and I'll do my best to provide a more detailed answer.
Recommended Medications
- Growth hormone
- trametinib
💊 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
Understanding Differential Diagnosis in Medical Context
In medical practice, differential diagnosis refers to the process of identifying and ruling out other possible causes of a patient's symptoms or condition, before arriving at a final diagnosis.
Noonan Syndrome: A Rare Genetic Disorder
Noonan syndrome is a rare genetic disorder characterized by distinctive facial features, short stature, congenital heart defects, and other comorbidities. The differential diagnosis for Noonan syndrome includes several other conditions that may present with similar symptoms.
Key Conditions to Consider in Differential Diagnosis
- Williams-Beuren Syndrome: A genetic disorder that affects about 1 in 10,000 people, characterized by distinctive facial features, short stature, and heart defects.
- Turner Syndrome: A genetic condition affecting females, characterized by short stature, delayed puberty, and other physical characteristics.
Importance of Accurate Diagnosis
Accurate diagnosis is crucial for effective treatment and management of Noonan syndrome. Healthcare providers must consider the differential diagnosis when evaluating patients with symptoms or conditions that may be related to Noonan syndrome.
- Genetic Testing: Genetic testing can help confirm a diagnosis of Noonan syndrome and rule out other genetic disorders.
- Clinical Evaluation: A thorough clinical evaluation, including physical examination and medical history, is essential for identifying the characteristic features of Noonan syndrome.
References
- [1] Sharland et al. (1992) - Average age of diagnosis of Noonan syndrome
- [3] Allanson (1987) - Williams-Beuren Syndrome
- [4] Morris (1993) - Turner Syndrome
Additional Differential Diagnoses
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070110
- core#notation
- DOID:0070110
- IAO_0000115
- A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21.
- rdf-schema#label
- obsolete Noonan syndrome 10
- 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_1982
- owl#annotatedSource
- t345567
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.