3C syndrome: Difference between revisions
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{{Short description|A rare genetic disorder}} | {{Short description|A rare genetic disorder}} | ||
{{Use dmy dates|date=October 2023}} | {{Use dmy dates|date=October 2023}} | ||
{{Infobox medical condition | |||
| name = 3C syndrome | |||
| image = [[File:PBB_GE_KIAA0196_201985_at_tn.png]] | |||
| caption = | |||
| synonyms = [[Cranio-cerebello-cardiac dysplasia]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Craniofacial dysmorphism]], [[cerebellar hypoplasia]], [[congenital heart defects]] | |||
| onset = [[Congenital]] | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''3C syndrome''', also known as '''cranio-cerebello-cardiac dysplasia''', is a rare [[genetic disorder]] characterized by [[craniofacial]] abnormalities, [[cerebellar]] malformations, and [[congenital heart defects]]. It is inherited in an [[autosomal recessive]] pattern. | '''3C syndrome''', also known as '''cranio-cerebello-cardiac dysplasia''', is a rare [[genetic disorder]] characterized by [[craniofacial]] abnormalities, [[cerebellar]] malformations, and [[congenital heart defects]]. It is inherited in an [[autosomal recessive]] pattern. | ||
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3C syndrome is caused by mutations in the [[KIAA0196]] gene, which is located on [[chromosome 8]]. This gene is responsible for encoding a protein involved in cellular processes such as [[endocytosis]] and [[vesicle trafficking]]. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. | 3C syndrome is caused by mutations in the [[KIAA0196]] gene, which is located on [[chromosome 8]]. This gene is responsible for encoding a protein involved in cellular processes such as [[endocytosis]] and [[vesicle trafficking]]. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. | ||
[[File:Autorecessive.svg|thumb| | [[File:Autorecessive.svg|thumb|left|Diagram of autosomal recessive inheritance]] | ||
==Diagnosis== | ==Diagnosis== | ||
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* [[Congenital heart defect]] | * [[Congenital heart defect]] | ||
* [[Autosomal recessive disorder]] | * [[Autosomal recessive disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{genetics-stub}} | |||
Latest revision as of 04:16, 25 March 2025
A rare genetic disorder
| 3C syndrome | |
|---|---|
| |
| Synonyms | Cranio-cerebello-cardiac dysplasia |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Craniofacial dysmorphism, cerebellar hypoplasia, congenital heart defects |
| Complications | N/A |
| Onset | Congenital |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
3C syndrome, also known as cranio-cerebello-cardiac dysplasia, is a rare genetic disorder characterized by craniofacial abnormalities, cerebellar malformations, and congenital heart defects. It is inherited in an autosomal recessive pattern.
Presentation[edit]
Individuals with 3C syndrome typically present with a combination of distinctive craniofacial features, neurological abnormalities, and heart defects. Common craniofacial features include a prominent forehead, a broad nasal bridge, and hypertelorism (widely spaced eyes). Neurological features often involve cerebellar hypoplasia, which can lead to ataxia and developmental delays. Cardiac anomalies may include ventricular septal defects and other structural heart defects.
Genetics[edit]
3C syndrome is caused by mutations in the KIAA0196 gene, which is located on chromosome 8. This gene is responsible for encoding a protein involved in cellular processes such as endocytosis and vesicle trafficking. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
Diagnosis[edit]
Diagnosis of 3C syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the KIAA0196 gene. Prenatal diagnosis may be possible through genetic testing if there is a known family history of the disorder.
Management[edit]
Management of 3C syndrome is supportive and symptomatic. It may involve a multidisciplinary approach including pediatricians, cardiologists, neurologists, and genetic counselors. Surgical intervention may be required for certain cardiac defects, and physical therapy can help manage motor difficulties associated with cerebellar hypoplasia.
Prognosis[edit]
The prognosis for individuals with 3C syndrome varies depending on the severity of the symptoms and the presence of life-threatening cardiac defects. Early intervention and supportive care can improve quality of life and developmental outcomes.
Related pages[edit]
