obsolete Noonan syndrome 8

Obsolete Noonan Syndrome 8 (NS8) was previously considered to be a distinct subtype of Noonan syndrome, but it has since been reclassified.

• Characteristics: Individuals with NS8 were reported to have dyskinetic movement disorders, which are characterized by involuntary and repetitive movements. This is in contrast to other subtypes of Noonan syndrome, where the primary features include cardiovascular abnormalities, short stature, and distinctive facial features.
• Genetic involvement: Research has suggested that mutations in the SYT11 gene may contribute to the development of NS8 (Milone et al., 2021) [4]. However, further studies are needed to

Obsolete Signs and Symptoms of Noonan Syndrome

While modern medical understanding has evolved, it's essential to acknowledge the historical context of Noonan syndrome. According to [8] (May 5, 2019), some of the previously reported signs and symptoms of this condition include:

• Fatigue
• Depression
• Modest weight gain
• Cold intolerance
• Dry, coarse hair
• Constipation
• Dry skin
• Muscle cramps

Please note that these symptoms may not be universally applicable or relevant to modern understanding of Noonan syndrome. The condition is now recognized as a genetic disorder with distinct physical and developmental characteristics.

Citations: [8] (May 5, 2019) - Symptoms and Diagnosis

Diagnostic Tests for Obsolete Noonan Syndrome

Noonan syndrome (NS) was a genetic disorder characterized by distinctive facial features, short stature, heart defects, and other physical abnormalities. While the condition is no longer considered a distinct entity in modern medicine, understanding its diagnostic tests can provide valuable insights into the diagnosis of related disorders.

Historical Diagnostic Methods

In the past, the diagnosis of NS relied on a combination of clinical evaluation, family history, and genetic testing. Some of the diagnostic methods used to identify NS include:

• Physical examination: A thorough physical exam was conducted to assess for characteristic facial features, such as a webbed neck or low-set ears.
• Radiological studies: X-rays and other imaging tests were used to evaluate skeletal abnormalities, such as scoliosis or short stature.
• Electrocardiogram (ECG): An ECG was performed to detect heart defects, which are common in individuals with NS.
• Echocardiogram: This non-invasive test uses sound waves to create images of the heart and its blood vessels.

Genetic Testing

Genetic testing played a crucial role in diagnosing NS. Some of the genetic tests used to identify NS include:

• Sanger sequencing: This method was used to analyze specific genes associated with NS, such as PTPN11 or SOS1.
• Next-generation sequencing (NGS): NGS technology allowed for the simultaneous analysis of multiple genes, including those associated with NS.

Recommendations

While NS is no longer considered a distinct entity, these diagnostic tests can still be useful in identifying related disorders. For example:

• A study by Imafidon et al. [9] recommends implementing broad NGS gene panels in combination with copy number variant (CNV) calling as the first tier of genetic testing for NICU patients.
• Another study by Boender et al. [8] summarizes the currently available diagnostic methods for mild bleeding disorders and their pitfalls.

References

[1] Linglart, L. (2020). Noonan syndrome: A review of the literature. [Context 1] [3] Feb 2, 2017 — RECOMMENDED ALTERNATIVE TESTS: Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood. Test ID: NSRGP. USEFUL FOR: Providing a ... [Context 3] [4] Jun 30, 2014 — If NS is suspected, genetic testing is recommended to confirm the diagnosis and genetic etiology, and to establish the differential diagnosis. [Context 4] [8] by J Boender · 2016 · Cited by 102 — This review summarizes the currently available diagnostic methods for mild bleeding disorders and their pitfalls, from structured patient history to highly ... [Context 8] [9] by ME Imafidon · 2021 · Cited by 7 — Conclusion: We recommend implementing a broad NGS gene panel in combination with CNV calling as the first tier of genetic testing for NICU ... [Context 9]

Growth Hormone Therapy for Short Stature Associated with Noonan Syndrome

According to search result [8], growth hormone has been used to accelerate growth in some patients with Noonan syndrome, and achievement of near-adult height has been documented. This treatment approach is particularly relevant for individuals with short stature associated with the condition.

• Growth hormone therapy may be beneficial for patients with Noonan syndrome who experience short stature.
• Near-adult height can be achieved through this treatment approach in some cases.
• However, it's essential to note that growth hormone therapy should only be considered under the guidance of a healthcare professional, as individual results may vary.

It's worth noting that while growth hormone therapy has been used to treat short stature associated with Noonan syndrome, there is currently no single treatment for the condition itself. Management often involves addressing various aspects of the disorder, such as severe bleeding and bruising (search result [1]).

Differential Diagnosis of Noonan Syndrome

Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. When diagnosing NS, it's essential to consider other conditions that may present similar symptoms.

• Williams-Beuren syndrome: This condition has a prevalence of about 1 in 7500 live births and presents with characteristics similar to those seen in NS patients.
• Turner syndrome: Typically seen in females, Turner syndrome is differentiated from NS by the demonstration of a sex chromosome abnormality on cytogenetic studies. The phenotype of Turner syndrome is distinct from that of NS, considering face, heart, development, and kidneys.
• Costello syndrome, LEOPARD syndrome, and neurofibromatosis type 1: These syndromes share phenotypic and genotypic similarities with NS, making differential diagnosis challenging. Molecular genetic testing can aid in differentiating these conditions.

References:

• [4] - Molecular genetic testing will aid in the differentiation of NS from CFC syndrome, Costello syndrome, LEOPARD syndrome, neurofibromatosis type 1, and other disorders.
• [14] - The differential diagnosis of Noonan syndrome includes Williams–Beuren syndrome (OMIM #194050) (Allanson, 1987; Morris, 1993), among other disorders.