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Tooth and Nail Syndrome is a rare genetic disorder characterized by abnormalities of the teeth and nails. The condition is also known as Hypodontia with Nail Dysgenesis and is caused by mutations in the MSX1 gene.

Symptoms

The primary symptoms of Tooth and Nail Syndrome include missing or malformed teeth (Hypodontia) and abnormalities of the nails. The nails may be small, thin, and easily broken. Some individuals may also have hearing loss.

Causes

Tooth and Nail Syndrome is caused by mutations in the MSX1 gene. This gene provides instructions for making a protein that is involved in the formation of several types of tissues during embryonic development. Mutations in the MSX1 gene disrupt the normal development of teeth and nails, leading to the features of Tooth and Nail Syndrome.

Diagnosis

Diagnosis of Tooth and Nail Syndrome is based on the clinical symptoms, a detailed patient history, and thorough clinical evaluation. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Tooth and Nail Syndrome is symptomatic and supportive. Dental treatments may include dental implants or dentures. Regular nail care is recommended to prevent breakage and infection.

Prognosis

The prognosis for individuals with Tooth and Nail Syndrome is generally good. The condition does not typically affect lifespan, but it can impact quality of life, particularly if the individual has significant dental or nail abnormalities.

See Also

• Genetic Disorders
• Dental Abnormalities
• Nail Disorders

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