Iniencephaly: Difference between revisions
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[[File:CRIM2015-520715.001.jpg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Iniencephaly | |||
| image = [[File:CRIM2015-520715.001.jpg|250px]] | |||
| caption = Radiographic image of iniencephaly | |||
| field = [[Neurology]], [[Obstetrics]] | |||
| symptoms = [[Neck hyperextension]], [[Occipital bone]] defect, [[Spina bifida]] | |||
| complications = [[Stillbirth]], [[Neonatal death]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutations]], [[Environmental factors]] | |||
| risks = [[Maternal diabetes]], [[Folic acid deficiency]] | |||
| diagnosis = [[Prenatal ultrasound]], [[MRI]] | |||
| differential = [[Anencephaly]], [[Encephalocele]] | |||
| prevention = [[Folic acid supplementation]] | |||
| treatment = [[Supportive care]] | |||
| prognosis = [[Poor]] | |||
| frequency = Rare | |||
}} | |||
'''Iniencephaly''' is a rare and severe type of [[neural tube defect]] characterized by extreme [[retroflexion]] (backward bending) of the head combined with severe distortion of the spine. This congenital malformation is often incompatible with life. | |||
==Presentation== | ==Presentation== | ||
Iniencephaly is typically identified at birth due to its distinctive physical features. The most notable characteristic is the extreme retroflexion of the head, where the face looks upward. The skin of the face is connected directly to the chest, and the scalp is connected to the back. This condition is often associated with other anomalies such as [[anencephaly]], [[encephalocele]], and [[spina bifida]]. | Iniencephaly is typically identified at birth due to its distinctive physical features. The most notable characteristic is the extreme retroflexion of the head, where the face looks upward. The skin of the face is connected directly to the chest, and the scalp is connected to the back. This condition is often associated with other anomalies such as [[anencephaly]], [[encephalocele]], and [[spina bifida]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The exact cause of iniencephaly is not well understood, but it is believed to result from a failure of the neural tube to close properly during the early stages of [[embryonic development]]. This defect occurs around the third to fourth week of pregnancy. The malformation involves the [[occipital bone]], [[cervical vertebrae]], and sometimes the upper [[thoracic vertebrae]]. | The exact cause of iniencephaly is not well understood, but it is believed to result from a failure of the neural tube to close properly during the early stages of [[embryonic development]]. This defect occurs around the third to fourth week of pregnancy. The malformation involves the [[occipital bone]], [[cervical vertebrae]], and sometimes the upper [[thoracic vertebrae]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Iniencephaly can be diagnosed prenatally through [[ultrasound]] imaging, which can reveal the characteristic retroflexion of the head and associated spinal abnormalities. [[Magnetic resonance imaging]] (MRI) may also be used to provide a more detailed view of the fetal anatomy. | Iniencephaly can be diagnosed prenatally through [[ultrasound]] imaging, which can reveal the characteristic retroflexion of the head and associated spinal abnormalities. [[Magnetic resonance imaging]] (MRI) may also be used to provide a more detailed view of the fetal anatomy. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for iniencephaly is extremely poor. Most affected infants are stillborn or die shortly after birth due to severe complications, including respiratory failure and other vital organ malformations. | The prognosis for iniencephaly is extremely poor. Most affected infants are stillborn or die shortly after birth due to severe complications, including respiratory failure and other vital organ malformations. | ||
==Epidemiology== | ==Epidemiology== | ||
Iniencephaly is an extremely rare condition, with an estimated incidence of 0.1 to 10 per 10,000 live births. It affects females more frequently than males. | Iniencephaly is an extremely rare condition, with an estimated incidence of 0.1 to 10 per 10,000 live births. It affects females more frequently than males. | ||
==Management== | ==Management== | ||
There is no cure for iniencephaly, and treatment options are limited. Prenatal diagnosis allows for early counseling and decision-making for the parents. In cases where the condition is detected early, parents may opt for termination of the pregnancy. | There is no cure for iniencephaly, and treatment options are limited. Prenatal diagnosis allows for early counseling and decision-making for the parents. In cases where the condition is detected early, parents may opt for termination of the pregnancy. | ||
==See also== | ==See also== | ||
* [[Neural tube defect]] | * [[Neural tube defect]] | ||
| Line 24: | Line 36: | ||
* [[Spina bifida]] | * [[Spina bifida]] | ||
* [[Encephalocele]] | * [[Encephalocele]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External links== | ==External links== | ||
{{Commons category|Iniencephaly}} | {{Commons category|Iniencephaly}} | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Neural tube defects]] | [[Category:Neural tube defects]] | ||
| Line 36: | Line 45: | ||
[[Category:Obstetrics]] | [[Category:Obstetrics]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Neural tube defects}} | {{Neural tube defects}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 01:20, 8 April 2025
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
| Iniencephaly | |
|---|---|
| File:CRIM2015-520715.001.jpg | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Neck hyperextension, Occipital bone defect, Spina bifida |
| Complications | Stillbirth, Neonatal death |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations, Environmental factors |
| Risks | Maternal diabetes, Folic acid deficiency |
| Diagnosis | Prenatal ultrasound, MRI |
| Differential diagnosis | Anencephaly, Encephalocele |
| Prevention | Folic acid supplementation |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | N/A |
Iniencephaly is a rare and severe type of neural tube defect characterized by extreme retroflexion (backward bending) of the head combined with severe distortion of the spine. This congenital malformation is often incompatible with life.
Presentation[edit]
Iniencephaly is typically identified at birth due to its distinctive physical features. The most notable characteristic is the extreme retroflexion of the head, where the face looks upward. The skin of the face is connected directly to the chest, and the scalp is connected to the back. This condition is often associated with other anomalies such as anencephaly, encephalocele, and spina bifida.
Pathophysiology[edit]
The exact cause of iniencephaly is not well understood, but it is believed to result from a failure of the neural tube to close properly during the early stages of embryonic development. This defect occurs around the third to fourth week of pregnancy. The malformation involves the occipital bone, cervical vertebrae, and sometimes the upper thoracic vertebrae.
Diagnosis[edit]
Iniencephaly can be diagnosed prenatally through ultrasound imaging, which can reveal the characteristic retroflexion of the head and associated spinal abnormalities. Magnetic resonance imaging (MRI) may also be used to provide a more detailed view of the fetal anatomy.
Prognosis[edit]
The prognosis for iniencephaly is extremely poor. Most affected infants are stillborn or die shortly after birth due to severe complications, including respiratory failure and other vital organ malformations.
Epidemiology[edit]
Iniencephaly is an extremely rare condition, with an estimated incidence of 0.1 to 10 per 10,000 live births. It affects females more frequently than males.
Management[edit]
There is no cure for iniencephaly, and treatment options are limited. Prenatal diagnosis allows for early counseling and decision-making for the parents. In cases where the condition is detected early, parents may opt for termination of the pregnancy.
See also[edit]
References[edit]
<references group="" responsive="1"></references>
External links[edit]
