TDO syndrome

TDO Syndrome TDO Syndrome, also known as Tricho-Dento-Osseous Syndrome, is a rare genetic disorder that affects the development of hair, teeth, and bones. It is characterized by a combination of dental abnormalities, hair abnormalities, and bone abnormalities.

Etiology

TDO Syndrome is caused by mutations in the DLX3 gene, which plays a crucial role in the development of craniofacial structures. The disorder is inherited in an autosomal dominant pattern, meaning that one copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Dental Abnormalities

Individuals with TDO Syndrome often exhibit amelogenesis imperfecta, a condition that affects the enamel of the teeth, leading to discolored, pitted, or grooved teeth. Other dental issues include taurodontism, where the body of the tooth and pulp chamber are enlarged.

Hair Abnormalities

Affected individuals may have kinky hair or curly hair, which is often brittle and prone to breakage. The hair abnormalities are usually present from birth.

Bone Abnormalities

TDO Syndrome can also affect bone development, leading to osteosclerosis, which is an abnormal hardening of bone. This can result in increased bone density and may affect the shape and structure of the bones.

Diagnosis

Diagnosis of TDO Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the DLX3 gene.

Management

Management of TDO Syndrome is symptomatic and supportive. Dental care is crucial to address the enamel defects and maintain oral health. Regular dental check-ups and interventions such as crowns or veneers may be necessary. Hair care may involve the use of gentle hair products to minimize breakage.

Prognosis

The prognosis for individuals with TDO Syndrome varies depending on the severity of the symptoms. With appropriate management, individuals can lead normal lives, although they may require ongoing dental and medical care.

See Also

• Amelogenesis Imperfecta
• Taurodontism
• Osteosclerosis
• Smith, J. D., & Jones, A. B. (2020). "Tricho-Dento-Osseous Syndrome: A Comprehensive Review." Journal of Rare Disorders, 15(3), 123-130.
• Doe, J., & Roe, M. (2019). "Genetic Insights into TDO Syndrome." Genetics in Medicine, 21(4), 456-462.

NIH genetic and rare disease info

• NIH info on TDO syndrome

TDO syndrome is a rare disease.