ICD10 code of Mainzer-Saldino syndrome and ICD9 code

Mainzer-Saldino Syndrome

Mainzer-Saldino Syndrome is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by a combination of skeletal abnormalities, kidney dysfunction, and vision problems. The syndrome is named after the two physicians who first described it, Dr. Mainzer and Dr. Saldino.

Symptoms

The symptoms of Mainzer-Saldino Syndrome can vary widely from person to person. Some common features of the syndrome include:

• Skeletal abnormalities: Individuals with Mainzer-Saldino Syndrome may have short stature, abnormal curvature of the spine (scoliosis), and abnormalities in the bones of the hands and feet.


• Kidney dysfunction: The syndrome can cause kidney abnormalities, including impaired kidney function and the presence of cysts in the kidneys.


• Vision problems: Many individuals with Mainzer-Saldino Syndrome experience vision problems, such as nearsightedness (myopia), cataracts, and retinal degeneration.


• Intellectual disability: Some individuals may have intellectual disability or developmental delay.


• Other features: Additional features of the syndrome may include liver abnormalities, heart defects, and hearing loss.

Genetics

Mainzer-Saldino Syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. The syndrome is caused by mutations in the IFT140 gene, which provides instructions for making a protein involved in the development and function of cilia. Cilia are tiny, hair-like structures found on the surface of cells and play a crucial role in various cellular processes.

Diagnosis

Diagnosing Mainzer-Saldino Syndrome can be challenging due to its rarity and variable presentation. A diagnosis is typically based on the presence of characteristic symptoms and findings, such as skeletal abnormalities, kidney dysfunction, and vision problems. Genetic testing can confirm the diagnosis by identifying mutations in the IFT140 gene.

Treatment

Currently, there is no specific treatment for Mainzer-Saldino Syndrome. Management of the syndrome focuses on addressing individual symptoms and providing supportive care. This may involve regular monitoring of kidney function, vision correction with glasses or contact lenses, and early intervention programs for developmental delays.

ICD-10 Code

The ICD-10 code for Mainzer-Saldino Syndrome is Q87.8. This code falls under the category of "Other specified congenital malformation syndromes affecting multiple systems."

ICD-9 Code

As of October 1, 2015, the ICD-9 code system has been replaced by ICD-10. However, for reference purposes, the ICD-9 code that was previously used for Mainzer-Saldino Syndrome is 759.89. This code falls under the category of "Other specified congenital anomalies."