National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Craniofrontonasal dysplasia



Could I have gender issues because of craniofrontonasal dysplasia?

Based on an extensive review of the available resources, craniofrontonasal dysplasia has not been noted to cause gender issues.  However, this condition may occasionally affect parts of the body associated with gender.  For example, asymmetry of the breasts or abnormalities of the uterus or Mullerian ducts has been noted in a few women with craniofrontonasal dysplasia, and hypospadias or an unusually shaped scrotum has been found in a few men.[1]  Because craniofrontonasal dysplasia is a rare condition, there is limited information about the potential psychological implications of the physical features associated with this condition.
Last updated: 9/29/2011

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  1. Wieacker P, Wieland I. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Molecular Genetics and Metabolism. 2005; 86:110-116. http://www.ncbi.nlm.nih.gov/pubmed?term=16143553. Accessed 9/23/2015.