Cranioschisis

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Cranioschisis
Synonyms
Pronounce N/A
Specialty N/A
Symptoms Skull defect, Exposed brain tissue
Complications Infection, Neurological deficits
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic factors, Environmental factors
Risks Family history, Maternal malnutrition, Teratogens
Diagnosis Prenatal ultrasound, MRI
Differential diagnosis Anencephaly, Encephalocele
Prevention Folic acid supplementation
Treatment Surgical repair
Medication N/A
Prognosis Varies, often poor
Frequency Rare
Deaths N/A


Cranioschisis is a rare birth defect characterized by the absence of the skull, with the brain being completely exposed. This condition is usually fatal and is often associated with anencephaly, another severe neural tube defect.

Causes[edit]

The exact cause of cranioschisis is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some studies suggest that a lack of folic acid during pregnancy may increase the risk of neural tube defects, including cranioschisis.

Symptoms[edit]

The most obvious symptom of cranioschisis is the absence of the skull, with the brain being completely exposed. Other symptoms may include facial abnormalities, heart defects, and other organ malformations.

Diagnosis[edit]

Cranioschisis can often be diagnosed before birth through ultrasound imaging. After birth, the diagnosis is usually obvious based on the physical appearance of the baby.

Treatment[edit]

There is no cure for cranioschisis, and treatment is usually supportive. This may include comfort care measures and counseling for the parents.

Prognosis[edit]

The prognosis for cranioschisis is poor, with most babies dying before or shortly after birth. Some babies may survive for a short time with intensive medical support.

Prevention[edit]

Taking folic acid supplements before and during pregnancy can help reduce the risk of neural tube defects, including cranioschisis.

See also[edit]

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