As a result, the eyeballs appear to protrude or bulge forward (proptosis). In most individuals, there is unusual shallowness of the orbits or the bony cavities of the skull that accommodate the eyeballs. However, craniosynostosis may sometimes be apparent at birth or, more rarely, may not be noted during early childhood. In those with Crouzon syndrome, craniosynostosis typically begins during the first year of life and progresses until approximately age two to three. Rarely, premature closure of multiple sutures (known as Kleeblattschadel type craniosynostosis) causes the skull to be abnormally divided into three lobes (cloverleaf skull deformity). In other patients, the head may appear long and narrow (scaphocephaly) or triangular (trigonocephaly). In most individuals with Crouzon syndrome, early sutural fusion causes the head to appear unusually short and broad (brachycephaly). In addition, the suture between the back and the sides of the skull (i.e., lambdoidal suture) or other sutures may be involved in some people. In most affected individuals, there is premature fusion of the sutures (i.e., coronal and sagittal sutures) between bones forming the forehead (frontal bone) and the upper sides of the skull (parietal bones). Cranial and facial malformations may vary, ranging from mild to potentially severe, including among members of the same family (kindred).įor example, the degree of cranial malformation is variable and depends on the specific cranial sutures involved as well as the order and rate of progression. Stay Informed With NORD’s Email NewsletterĬrouzon syndrome, also known as craniofacial dysostosis, is primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial abnormalities.Find a Rare Disease Patient Organization.Find Clinical Trials & Research Studies.
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