Franceschetti–Klein syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Franceschetti–Klein syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Franceschetti–Klein syndrome is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = [[Treacher Collins syndrome]], mandibulofacial dysostosis | |||
| pronounce = | |||
| specialty = [[Medical genetics]], [[Otolaryngology]] | |||
| symptoms = [[Craniofacial]] deformities, [[hearing loss]], [[cleft palate]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in [[TCOF1]], [[POLR1C]], or [[POLR1D]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Nager syndrome]], [[Miller syndrome]] | |||
| treatment = [[Surgical intervention]], [[hearing aids]], [[speech therapy]] | |||
| prognosis = Variable, depending on severity | |||
| frequency = 1 in 50,000 live births | |||
| deaths = Rarely life-threatening | |||
}} | |||
[[File:Micrognathia.jpg|Micrognathia, a condition often associated with Franceschetti–Klein syndrome|thumb|left]] | |||
'''Franceschetti–Klein syndrome''' is a rare genetic disorder characterized by craniofacial deformities. It is also known as '''Treacher Collins syndrome''' or '''mandibulofacial dysostosis'''. The syndrome is named after the Swiss ophthalmologist '''Adolphe Franceschetti''' and the German physician '''Ernst Klein'''. | '''Franceschetti–Klein syndrome''' is a rare genetic disorder characterized by craniofacial deformities. It is also known as '''Treacher Collins syndrome''' or '''mandibulofacial dysostosis'''. The syndrome is named after the Swiss ophthalmologist '''Adolphe Franceschetti''' and the German physician '''Ernst Klein'''. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Franceschetti–Klein syndrome can vary greatly from person to person. However, common symptoms include: | The symptoms of Franceschetti–Klein syndrome can vary greatly from person to person. However, common symptoms include: | ||
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* [[Downslanting palpebral fissures]] (downward slanting of the outer corners of the eyes) | * [[Downslanting palpebral fissures]] (downward slanting of the outer corners of the eyes) | ||
* [[Conductive hearing loss]] | * [[Conductive hearing loss]] | ||
== Causes == | == Causes == | ||
Franceschetti–Klein syndrome is caused by mutations in the [[TCOF1]], [[POLR1C]], or [[POLR1D]] genes. These genes are involved in the development of the bones and tissues of the face. The syndrome is inherited in an [[autosomal dominant]] manner, which means that an affected person has a 50% chance of passing the disorder on to their children. | Franceschetti–Klein syndrome is caused by mutations in the [[TCOF1]], [[POLR1C]], or [[POLR1D]] genes. These genes are involved in the development of the bones and tissues of the face. The syndrome is inherited in an [[autosomal dominant]] manner, which means that an affected person has a 50% chance of passing the disorder on to their children. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Franceschetti–Klein syndrome is usually based on a clinical examination and confirmed by genetic testing. The [[genetic testing]] can identify mutations in the TCOF1, POLR1C, or POLR1D genes. | The diagnosis of Franceschetti–Klein syndrome is usually based on a clinical examination and confirmed by genetic testing. The [[genetic testing]] can identify mutations in the TCOF1, POLR1C, or POLR1D genes. | ||
== Treatment == | == Treatment == | ||
There is no cure for Franceschetti–Klein syndrome. Treatment is symptomatic and supportive, and may include surgery to correct the craniofacial abnormalities, hearing aids to manage the conductive hearing loss, and speech therapy to help with speech development. | There is no cure for Franceschetti–Klein syndrome. Treatment is symptomatic and supportive, and may include surgery to correct the craniofacial abnormalities, hearing aids to manage the conductive hearing loss, and speech therapy to help with speech development. | ||
== See also == | == See also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Craniofacial surgery]] | * [[Craniofacial surgery]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Craniofacial abnormalities]] | [[Category:Craniofacial abnormalities]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 18:25, 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
| Franceschetti–Klein syndrome | |
|---|---|
| |
| Synonyms | Treacher Collins syndrome, mandibulofacial dysostosis |
| Pronounce | |
| Specialty | Medical genetics, Otolaryngology |
| Symptoms | Craniofacial deformities, hearing loss, cleft palate |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in TCOF1, POLR1C, or POLR1D |
| Risks | Family history of the condition |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Nager syndrome, Miller syndrome |
| Prevention | N/A |
| Treatment | Surgical intervention, hearing aids, speech therapy |
| Medication | N/A |
| Prognosis | Variable, depending on severity |
| Frequency | 1 in 50,000 live births |
| Deaths | Rarely life-threatening |
Franceschetti–Klein syndrome is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins syndrome or mandibulofacial dysostosis. The syndrome is named after the Swiss ophthalmologist Adolphe Franceschetti and the German physician Ernst Klein.
Symptoms[edit]
The symptoms of Franceschetti–Klein syndrome can vary greatly from person to person. However, common symptoms include:
- Micrognathia (small lower jaw)
- Microtia (small or absent ears)
- Coloboma (notch in the lower eyelids)
- Downslanting palpebral fissures (downward slanting of the outer corners of the eyes)
- Conductive hearing loss
Causes[edit]
Franceschetti–Klein syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes are involved in the development of the bones and tissues of the face. The syndrome is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the disorder on to their children.
Diagnosis[edit]
The diagnosis of Franceschetti–Klein syndrome is usually based on a clinical examination and confirmed by genetic testing. The genetic testing can identify mutations in the TCOF1, POLR1C, or POLR1D genes.
Treatment[edit]
There is no cure for Franceschetti–Klein syndrome. Treatment is symptomatic and supportive, and may include surgery to correct the craniofacial abnormalities, hearing aids to manage the conductive hearing loss, and speech therapy to help with speech development.
See also[edit]
References[edit]
<references />
