Yes. While we are not aware of incidence estimates for colpocephaly, since the first description in 1940, 50 cases have been reported in the medical literature.

Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.

Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases. Cases of people with colpocephaly and normal neurological and motor development have also been described.

There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.

Colpocephaly has been found in association with several other central nervous system malformations. The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Associated conditions and malformations include; agenesis of corpus callosum, neuronal migration disorders (lissencephaly, pachygyria), schizencephaly, microgyria, macrogyria, enlargement of cisterna magna, cerebellar atrophy, optic nerve hypoplasia, chorioretinal coloboma, microcephaly, meningomyelocele, and hydrocephalus. Other associated anomalies included micrognathia, hypoplastic nails, simian creases, Pierre-Robin syndrome, and neurofibromatosis.

Scientists are rapidly learning how harmful insults at various stages of pregnancy can lead to developmental disorders. They are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Understanding how genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs, toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. In addition, researchers are examining the mechanisms involved in neurulation - the process of forming the neural tube. These studies will improve our understanding of this process and give insight into how the process can go awry and cause devastating congenital disorders. Investigators are also analyzing genes and gene products necessary for human brain development to achieve a better understanding of normal brain development in humans.