Tricho–dento–osseous syndrome: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = Tricho–dento–osseous syndrome | |||
| image = [[File:Abces_parulique.jpg|alt=Image of a dental abscess]] | |||
| caption = Dental abscess, a possible complication in TDO syndrome | |||
| synonyms = TDO syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]], [[Dentistry]] | |||
| symptoms = [[Kinky hair]], [[enamel hypoplasia]], [[taurodontism]], [[osteosclerosis]] | |||
| onset = [[Birth]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[DLX3]] gene | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[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== | ==Signs and Symptoms== | ||
Individuals with TDO typically exhibit a range of symptoms, including: | Individuals with TDO typically exhibit a range of symptoms, including: | ||
| Line 8: | Line 29: | ||
* Increased [[bone density]] (osteosclerosis) | * Increased [[bone density]] (osteosclerosis) | ||
* [[Craniofacial dysmorphisms]], such as a prominent forehead and a flat nasal bridge | * [[Craniofacial dysmorphisms]], such as a prominent forehead and a flat nasal bridge | ||
==Genetics== | ==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. | 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== | ||
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. | 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== | ==Management== | ||
There is no cure for TDO, and treatment is focused on managing the symptoms. This may include: | There is no cure for TDO, and treatment is focused on managing the symptoms. This may include: | ||
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* Orthodontic treatment to address dental abnormalities | * Orthodontic treatment to address dental abnormalities | ||
* Monitoring and managing bone density | * Monitoring and managing bone density | ||
==Epidemiology== | ==Epidemiology== | ||
TDO is a rare condition, and its exact prevalence is unknown. It has been reported in various populations around the world. | TDO is a rare condition, and its exact prevalence is unknown. It has been reported in various populations around the world. | ||
==See Also== | ==See Also== | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Osteosclerosis]] | * [[Osteosclerosis]] | ||
* [[DLX3]] | * [[DLX3]] | ||
==See also== | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Enamel hypoplasia]] | * [[Enamel hypoplasia]] | ||
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* [[Osteosclerosis]] | * [[Osteosclerosis]] | ||
* [[DLX3]] | * [[DLX3]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External Links== | ==External Links== | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dental conditions]] | [[Category:Dental conditions]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Autosomal dominant disorders]] | [[Category:Autosomal dominant disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 06:58, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
TDO is a rare condition, and its exact prevalence is unknown. It has been reported in various populations around the world.
See Also[edit]
See also[edit]
References[edit]
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External Links[edit]
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