Tricho–dento–osseous syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics

Tricho–dento–osseous syndrome
Synonyms	TDO syndrome
Pronounce
Specialty	Medical genetics, Dentistry
Symptoms	Kinky hair, enamel hypoplasia, taurodontism, osteosclerosis
Complications	N/A
Onset	Birth
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the DLX3 gene
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Amelogenesis imperfecta, osteopetrosis
Prevention
Treatment	Dental care, orthodontic treatment
Medication
Prognosis	Generally good with proper management
Frequency	Rare
Deaths

Tricho–dento–osseous syndrome (TDO) is a rare genetic disorder that affects the development of the hair, teeth, and bones. It is characterized by distinctive dental abnormalities, hair abnormalities, and increased bone density. TDO is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Signs and Symptoms

Individuals with TDO typically exhibit a range of symptoms, including:

• Kinky hair or curly hair
• Enamel hypoplasia, which leads to thin enamel and dental caries
• Taurodontism, a condition where the pulp chamber of the teeth is enlarged
• Increased bone density (osteosclerosis)
• Craniofacial dysmorphisms, such as a prominent forehead and a flat nasal bridge

Genetics

TDO is caused by mutations in the DLX3 gene, which plays a crucial role in the development of hair, teeth, and bones. The DLX3 gene provides instructions for making a protein that is involved in the regulation of other genes during the development of these tissues.

Diagnosis

Diagnosis of TDO is based on clinical evaluation, family history, and the identification of characteristic features. Genetic testing can confirm the diagnosis by detecting mutations in the DLX3 gene.

Management

There is no cure for TDO, and treatment is focused on managing the symptoms. This may include:

• Regular dental care to manage enamel hypoplasia and prevent dental caries
• Orthodontic treatment to address dental abnormalities
• Monitoring and managing bone density

Epidemiology

TDO is a rare condition, and its exact prevalence is unknown. It has been reported in various populations around the world.

See Also

• Genetic disorder
• Enamel hypoplasia
• Taurodontism
• Osteosclerosis
• DLX3

See also

• Genetic disorder
• Enamel hypoplasia
• Taurodontism
• Osteosclerosis
• DLX3

External Links

-

   This article is a genetic disorder stub. You can help WikiMD by expanding it!