Cyclopia: Difference between revisions
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{{Infobox medical condition | |||
| name = Cyclopia | |||
| image = [[File:Cyclopia_fetuses.jpg|250px]] | |||
| caption = Cyclopia in [[fetal development]] | |||
| field = [[Medical genetics]] | |||
| synonyms = [[Synophthalmia]] | |||
| symptoms = Single [[eye]] or partially divided eye in a single [[orbit (anatomy)|orbit]] | |||
| complications = [[Stillbirth]], [[neonatal death]] | |||
| onset = [[Congenital disorder|Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic disorder]], [[environmental factors]] | |||
| risks = [[Trisomy 13]], [[maternal diabetes]], [[alcohol consumption]] during pregnancy | |||
| diagnosis = [[Prenatal diagnosis|Prenatal]] [[ultrasound]], [[MRI]] | |||
| differential = [[Anophthalmia]], [[Microphthalmia]] | |||
| prevention = Avoidance of known risk factors | |||
| treatment = None | |||
| prognosis = Poor | |||
| frequency = 1 in 16,000 births | |||
}} | |||
[[File:Cyclopia1793.png|Cyclopia|thumb|left]] | |||
[[Cyclopia]], named after the mythical one-eyed creature from Greek mythology, the Cyclops, is a rare and complex form of a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. | [[Cyclopia]], named after the mythical one-eyed creature from Greek mythology, the Cyclops, is a rare and complex form of a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. | ||
== Embryology and Pathophysiology == | == Embryology and Pathophysiology == | ||
During normal embryonic development, the prosencephalon, or forebrain, divides to form two optic vesicles, leading to the development of two separate eyes. In cyclopia, this division process fails to occur, resulting in the formation of a single, central eye.<ref>{{cite journal|last1=Chan|first1=Alan H.|last2=Palma-Dias|first2=Ricardo|last3=Reidy|first3=Kristy L.|last4=et al.|title=Association of prenatally diagnosed cyclopia with an increased risk of maternal undiagnosed carcinoma|journal=Prenatal Diagnosis|year=2017|volume=37|issue=4|pages=323–327|doi=10.1002/pd.5017|pmid=28109000}}</ref> | During normal embryonic development, the prosencephalon, or forebrain, divides to form two optic vesicles, leading to the development of two separate eyes. In cyclopia, this division process fails to occur, resulting in the formation of a single, central eye.<ref>{{cite journal|last1=Chan|first1=Alan H.|last2=Palma-Dias|first2=Ricardo|last3=Reidy|first3=Kristy L.|last4=et al.|title=Association of prenatally diagnosed cyclopia with an increased risk of maternal undiagnosed carcinoma|journal=Prenatal Diagnosis|year=2017|volume=37|issue=4|pages=323–327|doi=10.1002/pd.5017|pmid=28109000}}</ref> | ||
== Clinical Presentation == | == Clinical Presentation == | ||
The clinical presentation of cyclopia is marked by a single eye located where the nose should be and is usually associated with a spectrum of facial and brain anomalies. This includes a missing or a non-functional nose, an abnormally developed brain, and a very small mouth (proboscis). However, the phenotypic severity varies greatly, with the most severe forms incompatible with life.<ref>{{cite journal|last1=Manouvrier-Hanu|first1=Sylvie|last2=Holder-Espinasse|first2=Muriel|last3=Lyonnet|first3=Stanislas|title=Cyclopia: Clinical Key Points and Ethical Aspects|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|year=2019|volume=181|issue=2|pages=280–286|doi=10.1002/ajmg.c.31697|pmid=30993897}}</ref> | The clinical presentation of cyclopia is marked by a single eye located where the nose should be and is usually associated with a spectrum of facial and brain anomalies. This includes a missing or a non-functional nose, an abnormally developed brain, and a very small mouth (proboscis). However, the phenotypic severity varies greatly, with the most severe forms incompatible with life.<ref>{{cite journal|last1=Manouvrier-Hanu|first1=Sylvie|last2=Holder-Espinasse|first2=Muriel|last3=Lyonnet|first3=Stanislas|title=Cyclopia: Clinical Key Points and Ethical Aspects|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|year=2019|volume=181|issue=2|pages=280–286|doi=10.1002/ajmg.c.31697|pmid=30993897}}</ref> | ||
== Etiology == | == Etiology == | ||
Cyclopia can be associated with the ingestion of certain substances during pregnancy, such as ethanol and [[quinacrine]], an antimalarial drug. It is also associated with certain genetic conditions, including Patau Syndrome ([[Trisomy 13]]) and [[Holoprosencephaly]], the most common structural malformation of the brain that involves incomplete forebrain division.<ref>{{cite journal|last1=Roessler|first1=Erich|last2=Muenke|first2=Maximilian|title=The molecular genetics of holoprosencephaly|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|year=2010|volume=154C|issue=1|pages=52–61|doi=10.1002/ajmg.c.30236|pmid=20104595}}</ref> | Cyclopia can be associated with the ingestion of certain substances during pregnancy, such as ethanol and [[quinacrine]], an antimalarial drug. It is also associated with certain genetic conditions, including Patau Syndrome ([[Trisomy 13]]) and [[Holoprosencephaly]], the most common structural malformation of the brain that involves incomplete forebrain division.<ref>{{cite journal|last1=Roessler|first1=Erich|last2=Muenke|first2=Maximilian|title=The molecular genetics of holoprosencephaly|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|year=2010|volume=154C|issue=1|pages=52–61|doi=10.1002/ajmg.c.30236|pmid=20104595}}</ref> | ||
== Diagnosis and Management == | == Diagnosis and Management == | ||
The diagnosis of cyclopia is usually made with prenatal ultrasound, followed by MRI or CT for further evaluation. Management is supportive due to the severe associated anomalies and poor prognosis. | The diagnosis of cyclopia is usually made with prenatal ultrasound, followed by MRI or CT for further evaluation. Management is supportive due to the severe associated anomalies and poor prognosis. | ||
{{stub}} | {{stub}} | ||
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[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Absent body parts]] | [[Category:Absent body parts]] | ||
Latest revision as of 13:46, 5 April 2025
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| Cyclopia | |
|---|---|
| File:Cyclopia fetuses.jpg | |
| Synonyms | Synophthalmia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Single eye or partially divided eye in a single orbit |
| Complications | Stillbirth, neonatal death |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic disorder, environmental factors |
| Risks | Trisomy 13, maternal diabetes, alcohol consumption during pregnancy |
| Diagnosis | Prenatal ultrasound, MRI |
| Differential diagnosis | Anophthalmia, Microphthalmia |
| Prevention | Avoidance of known risk factors |
| Treatment | None |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | 1 in 16,000 births |
| Deaths | N/A |
Cyclopia, named after the mythical one-eyed creature from Greek mythology, the Cyclops, is a rare and complex form of a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
Embryology and Pathophysiology[edit]
During normal embryonic development, the prosencephalon, or forebrain, divides to form two optic vesicles, leading to the development of two separate eyes. In cyclopia, this division process fails to occur, resulting in the formation of a single, central eye.<ref>,
Association of prenatally diagnosed cyclopia with an increased risk of maternal undiagnosed carcinoma, Prenatal Diagnosis, 2017, Vol. 37(Issue: 4), pp. 323–327, DOI: 10.1002/pd.5017, PMID: 28109000,</ref>
Clinical Presentation[edit]
The clinical presentation of cyclopia is marked by a single eye located where the nose should be and is usually associated with a spectrum of facial and brain anomalies. This includes a missing or a non-functional nose, an abnormally developed brain, and a very small mouth (proboscis). However, the phenotypic severity varies greatly, with the most severe forms incompatible with life.<ref>,
Cyclopia: Clinical Key Points and Ethical Aspects, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2019, Vol. 181(Issue: 2), pp. 280–286, DOI: 10.1002/ajmg.c.31697, PMID: 30993897,</ref>
Etiology[edit]
Cyclopia can be associated with the ingestion of certain substances during pregnancy, such as ethanol and quinacrine, an antimalarial drug. It is also associated with certain genetic conditions, including Patau Syndrome (Trisomy 13) and Holoprosencephaly, the most common structural malformation of the brain that involves incomplete forebrain division.<ref>,
The molecular genetics of holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, Vol. 154C(Issue: 1), pp. 52–61, DOI: 10.1002/ajmg.c.30236, PMID: 20104595,</ref>
Diagnosis and Management[edit]
The diagnosis of cyclopia is usually made with prenatal ultrasound, followed by MRI or CT for further evaluation. Management is supportive due to the severe associated anomalies and poor prognosis.
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