Cranioschisis

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

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

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

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

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

Prognosis

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

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

See also

• Anencephaly
• Neural tube defect
• Folic acid