obsolete Noonan syndrome 7

Noonan Syndrome 7 (NS7) Description

Noonan syndrome-7 (NS7) was a previously described developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects [1]. This condition is now considered obsolete as it has been subsumed under the broader category of Noonan syndrome.

Key Features

• Reduced postnatal growth
• Dysmorphic facial features
• Cardiac defects
• Variable cognitive defects

Note on Obsolescence

The description of NS7 is no longer used in current medical literature, and the condition has been reclassified as part of the broader spectrum of Noonan syndrome [1].

Characteristics of Obsolete Noonan Syndrome

Noonan syndrome, as described in [7] (2023), was characterized by several distinct features, including:

• Slow growth: Individuals with Noonan syndrome often experienced slow growth rates, leading to short stature.
• Short stature: This was a common feature among those affected by the condition, making it difficult for them to reach average height.
• Mental retardation: Unfortunately, mental retardation (now referred to as intellectual disability) was also associated with Noonan syndrome, affecting cognitive development and overall quality of life.
• Peculiar facial features: The condition was marked by distinctive facial characteristics, such as a flat nose bridge, which set it apart from other genetic disorders.
• Structural heart abnormalities: Heart problems were another common issue among those with Noonan syndrome, including structural defects that could impact cardiovascular health.
• Abnormal bone development: In some cases, individuals with Noonan syndrome may have experienced abnormal bone growth or development.

These characteristics highlight the complexities and challenges associated with Noonan syndrome as it was previously understood.

Based on the provided context, it appears that there are several diagnostic tests available for Noonan syndrome, but I couldn't find any specific information about "obsolete" tests.

However, I can provide some general information about the diagnostic tests mentioned in the search results:

• A complete blood count (CBC) with platelet count, coagulation profile, and measurement of factor XI level is recommended at a minimum [2].
• Next-generation sequencing to detect single nucleotide and copy number variants in 20 genes associated with Noonan syndrome and related conditions is available [3].
• Prenatal diagnosis is possible on chorionic villi or amniotic fluid, but prenatal signs are nonspecific [6].

It's worth noting that the search results mention a 36 gene panel that includes assessment of non-coding variants, which may be ideal for patients with a clinical suspicion of a RASopathy [8]. However, I couldn't find any information about specific "obsolete" tests.

If you're looking for more information on diagnostic tests for Noonan syndrome, I can try to provide some general information or suggest some resources.

Treatment Options for Obsolete Noonan Syndrome

Noonan syndrome, although considered obsolete in modern medical terminology, was a condition that required careful management and treatment. In the past, doctors used various medications to help alleviate symptoms associated with this disorder.

• Hormone Replacement Therapy: The combination of growth hormone (hGH) and low-dose estrogen was found to improve growth and adult height in patients with Noonan syndrome [7]. This therapy may also provide neurocognitive and behavioral benefits.
• Growth Hormone: Growth hormone has been used to accelerate growth in some patients with Noonan syndrome, leading to the achievement of near-adult height [8].

It's essential to note that these treatment options were explored in the past and might not be relevant or effective for modern cases of Noonan syndrome. The current understanding and management of this condition have evolved significantly.

References: [7] EM Chacko (2012) - Cited by 19 [8] Sep 30, 2024 - Growth hormone has been used to accelerate growth in some patients with the disorder...

Differential Diagnosis of Noonan Syndrome

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

Similar Syndromes:

• Turner Syndrome: A