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Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus). Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis); and/or abnormal lateral curvature of the spine (scoliosis). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome). Females affected with this condition generally have more symptoms than affected males. Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.
Source: GARD Last updated on 05-01-20
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. 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 on 05-01-20
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