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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Colpocephaly


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Cause


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What causes colpocephaly?

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.[1] 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.[2]
Last updated: 7/8/2013

References
  1. . NINDS Colpocephaly Information Page. National Institute of Neurological Disorders and Stroke . http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm. Accessed 2/1/2008.
  2. Puvabanditsin S, Garrow E, Ostrerov Y, Trucanu D, Ilic M, Cholenkeril JV. Colpocephaly: A Case Report. Am J Perinatol. 2006; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=16799912%5Buid%5D&WebEnv=0HzSMNKOfhWzqyHUjE16qPmpWfTa2A3iwzaS-l6C7Uw3ElobJnL2wduDmXhsLvcWErSldRWg3E8oxBv%403F70508D79A1C8D0_0063SID&WebEnvRq=1. Accessed 2/1/2008.