obsolete Noonan syndrome 6

Noonan Syndrome: A Rare Genetic Disorder

Noonan syndrome, also known as autosomal dominant Noonan syndrome, is a rare genetic disorder that affects various systems in the body. It is characterized by short stature, heart defects, and other physical abnormalities.

• Short Stature: Individuals with Noonan syndrome often have short stature, which can range from mild to severe [4].
• Heart Defects: Heart defects are a common feature of Noonan syndrome, including pulmonary valve stenosis, atrial septal defect, and ventricular septal defect [1].
• Physical Abnormalities: Other physical abnormalities associated with Noonan syndrome include webbed neck, low-set ears, and skeletal deformities [4].

Diagnosis

The diagnosis of Noonan syndrome is typically made through genetic testing, which can confirm the presence of a mutation in the PTPN11 gene or other genes associated with the disorder [5]. A combination of clinical features and genetic testing is used to establish the differential diagnosis.

Treatment

There is no cure for Noonan syndrome, but treatment options are available to manage the symptoms and complications associated with the disorder. These may include medications, surgical procedures, lifestyle changes, and physical therapy [2].

References:

[1] - Context result 5: "If NS is suspected, genetic testing is recommended to confirm the diagnosis and genetic etiology, and to establish the differential diagnosis."

[2] - Context result 2: "Some common treatment options may include medications, surgical procedures, lifestyle changes, and physical therapy. In some cases, a combination of these..."

[4] - Context result 4: "Genetic malformation syndrome with short stature (78). Noonan syndrome and Noonan-related syndrome; Genetic multiple congenital anomalies/dysmorphic syndrome..."

[5] - Context result 5: "If NS is suspected, genetic testing is recommended to confirm the diagnosis and genetic etiology, and to establish the differential diagnosis."

Noonan Syndrome Signs and Symptoms

Noonan syndrome, also known as "obsolete" in the context provided, is a genetic disorder that affects multiple parts of the body. The signs and symptoms can vary greatly among individuals, depending on the gene(s) affected by the mutation.

• Facial Features: Children with Noonan syndrome may have specific facial features noticeable at birth, including:
  • A large head
  • Widely spaced, downward-slanting eyes with pale blue or green irises
  • Low-set ears that are rotated backward
  • A nose that is flat or slightly upturned
• Short Stature: Individuals with Noonan syndrome often experience short stature.
• Congenital Heart Defects: The most common health concern associated with Noonan syndrome is a heart problem called pulmonary valve stenosis, which interferes with blood flow from the heart to the lungs.
• Bleeding Problems: Some individuals may experience bleeding problems due to platelet abnormalities.
• Skeletal Malformations: Developmental delay and skeletal malformations are also associated with Noonan syndrome.

It's essential to note that the signs and symptoms of Noonan syndrome can vary greatly among individuals, and some people may not exhibit all of these features. Additionally, the severity of the condition can range from mild to severe.

References:

• [6] by L Linglart · 2020 · Cited by 122 — Additional extracardiac features include neurodevelopmental disabilities, cryptorchidism, delayed puberty, lymphedema, bleeding disorders, and a slightly ...
• [13] Signs and symptoms of Noonan syndrome vary greatly among individuals depending on the gene(s) affected by the mutation and may range from mild to severe. Patients with Noonan syndrome may have specific facial features noticeable at birth, including a large head; widely spaced, downward-slanting eyes with pale blue or green irises; low-set ears that are rotated backward; and a nose that is ...
• [14] Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (

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.

• Chest X-ray [8]
• CT scan [8]
• Echocardiogram [8]
• Electrocardiogram (EKG) [8]
• Ultrasound [8]

These tests were mentioned as part of the diagnostic process for Noonan syndrome, but it is not clear if they are still widely used or recommended today.

In contrast, more modern and commonly used diagnostic tests for Noonan syndrome include:

• Complete blood count (CBC) with platelet count, coagulation profile, and measurement of factor XI level [4]
• Genetic testing, which can be performed through a simple blood or cheek swab test [5, 6]

It's worth noting that genetic testing is now considered a key diagnostic tool for Noonan syndrome, and may be used in conjunction with clinical evaluation to make a diagnosis.

Medications for Short Stature Associated with Noonan Syndrome

According to various sources, there are several medications that have been used to treat short stature associated with Noonan syndrome.

• Genotropin Cartridge: This is a growth hormone medication that has been used to accelerate growth in patients with Noonan syndrome. [6]
• Genotropin Syringe: Similar to the cartridge, this syringe contains growth hormone and has been used to treat short stature associated with Noonan syndrome. [6]
• Norditropin Flexpro Pen Injector: This is another growth hormone medication that has been used to improve growth and adult height in patients with Noonan syndrome. [6]

It's worth noting that while these medications have been used to treat short stature associated with Noonan syndrome, they may not be suitable for everyone and should only be prescribed by a healthcare professional.

References: [6] - The list of medications mentioned above is based on information from search result 6, which lists 5 medications found for 'short stature associated with noonan syndrome'.

Differential Diagnosis of Obsolete Noonan Syndrome

Noonan syndrome, a genetic disorder characterized by distinctive facial features, short stature, and congenital heart disease, has several differential diagnoses that can be considered in its diagnosis. These include:

• Turner syndrome (45, XO): A chromosomal condition that affects females, causing short stature, infertility, and other physical characteristics.
• Cardiofaciocutaneous (CFC) syndrome: A rare genetic disorder that affects the heart, face, and skin, with symptoms similar to those of Noonan syndrome.
• Costello syndrome: A rare genetic disorder characterized by facial abnormalities, short stature, and an increased risk of cancer.

These differential diagnoses are challenging due to their phenotypic and genotypic similarities with Noonan syndrome. However, precise diagnosis is crucial for appropriate management and treatment.

References:

• [3] Differential diagnoses of Noonan syndrome include Turner syndrome (45, XO), cardiofaciocutaneous (CFC) syndrome, Costello syndrome.
• [8] Owing to the phenotypic and genotypic similarities, the differential diagnosis of these syndromes is challenging. However, precise diagnosis is crucial for appropriate management and treatment.
• [9] Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, and congenital heart disease.