Diagnosing colpocephaly prenatally is difficult because in many cases signs start to appear after birth. Prenatal diagnosis is made by detecting enlargement of either or both occipital horns of the lateral ventricles. Usually prenatal ultrasounds don't show cephalic abnormalities and in cases that they do show abnormality is of low accuracy, making it difficult to diagnose colpocephaly. Often, abnormalities in prenatal ultrasounds can be misdiagnosed as hydrocephalus.

The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.

After birth, MR imaging can be done to look for cephalic abnormalities. This is the most commonly used method for diagnosing colpocephaly. Physicians look for abnormally large occipital horns of the lateral ventricles and diminished thickness of white matter. Spinal tapping is not a preferred method for diagnosis because newborn babies with colpocephaly or hydrocephaly have open fontanelles which makes it difficult to collect CSF. Also, colpocephaly is not associated with increased pressure.

Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.

A microgyrus is an area of the cerebral cortex that includes only four cortical layers instead of six.

Microgyria are believed by some to be part of the genetic lack of prenatal development which is a cause of, or one of the causes of, dyslexia.

Albert Galaburda of Harvard Medical School noticed that language centers in dyslexic brains showed microscopic flaws known as ectopias and microgyria (Galaburda "et al.", 2006, "Nature Neuroscience" 9(10): 1213-1217). Both affect the normal six-layer structure of the cortex. These flaws affect connectivity and functionality of the cortex in critical areas related to sound and visual processing. These and similar structural abnormalities may be the basis of the inevitable and hard to overcome difficulty in reading.

The diagnosis is usually based on clinical features present at birth.

Ultrasound in the second trimester may show abnormalities associates with NLS, including polyhydramnios, intrauterine growth restriction, microcephaly, proptosis and decreased fetal motility.

The prognosis is poor; affected individuals are either stillborn or die shortly after birth. The longest survival reported in literature is of 134 days.

This syndrome is transmitted as an autosomal recessive disorder and there is a risk for recurrence of 25% in future pregnancies.

Every disease has different signs and symptoms. Some of them are persistent headache; pain in the face, back, arms, or legs; an inability to concentrate; loss of feeling; memory loss; loss of muscle strength; tremors; seizures; increased reflexes, spasticity, tics; paralysis; and slurred speech. One should seek medical attention if affected by these.

There is a wide range of treatments for central nervous system diseases. These can range from surgery to neural rehabilitation or prescribed medications.