OverviewSimilar to my earlier post on Apert syndrome, Crouzon syndrome is a condition where the bones in the skull begin to fuse together prematurely. When this happens, the bones in the skull cannot grow properly causing the face and skull to become misshapen. This also leads to the eyes looking wide-set and bulgy, eyes not pointing in the same direction, a beaked nose, underdeveloped jaw and sometimes cleft lip and palate. Individuals with Crouzon syndrome may also suffer from hearing loss due to the narrowed ear canals. This condition is autosomal dominate meaning that it only takes one parent to have the gene to carry it onto their offspring.
|Mother Bobbie Jo, inherited Crouzon syndrome from her father. She then went on to pass Crouzon syndrome to all of her children.|
CausesThe genes that are linked to developing this condition are FGFR2 (fibroblast growth factor receptor 2) on chromosome 10 and FGFR3 on chromosome 4 which regulates how quickly the bones fuse together. Any mutations in the FGFR2 and FGFR3 genes can cause signaling errors between cells which can lead to the bones fusing prematurely. Sometimes Crouzon syndrome is passed down from a parent who is a carrier of the condition, other times a new mutation may occur in the gene during embryonic development where no previous family history is present. Crouzon syndrome is rare and is estimated to occur in 16 per one million births.
TreatmentThere are many treatment options available for those with Crouzon syndrome including surgery to reshape the skull (cranial vault expansion and reshaping). Children can also visit an ophthalmologist regularly to ensure that they aren't at risk for further visual impairments.
|A young girl using a LeFort III midface advancement system to correct breathing and facial growth, courtesy of seattlechildrens.org|