What is the definition of Craniofrontonasal Dysplasia?

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.

What are the alternative names for Craniofrontonasal Dysplasia?

  • Craniofrontonasal syndrome
  • CFNS
  • CFND
  • Craniofrontonasal dysostosis

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