Craniofacial Syndrome

Craniofacial surgery is a subspecialty of maxillofacial surgery that deals with congenital and acquired deformities of the skull, face, jaw bone and associated structures. There are estimated to be over 500 syndromes with craniofacial anomalies. Most are morphologic, affecting the form and function of the head and face. These defects are typically treated by craniofacial surgeons which includes craniosynostosis (isolated and syndromic), rare craniofacial clefts, cleft lip and palate, micrognathia, hemifacial microsomia, Treacher Collins Syndrome, Apert’s Syndrome, Crouzon’s Syndrome, hemifacial microsomia and many others. The clinical manifestations of these symptoms extend beyond the craniofacial area. Therefore, the best treatment approach is one that is multidisciplinary and takes into consideration physical and mental development.

Things to know about 
Craniofacial Syndrome

Craniosynostosis refers to the early closing of one or more of the sutures of an infant’s head. It is a congenital disorder marked by premature fusion of one or more cranial sutures, resulting in abnormal cranial growth. The skull is normally composed of bones which are separated by sutures. As an infant’s brain grows, open sutures allow the skull to expand and develop a relatively normal head shape. If one or more of the sutures has closed early, it causes the skull to expand in the direction of the open sutures. This can result in an abnormal head shape. In severe cases, this condition can also cause increased pressure on the growing brain.

Before after of craniofacial syndrome and cleft lip palate repair & surgery

Approximately one in 2500 infants is affected by this disorder. Most cases are nonsyndromic or isolated. Syndromic craniosynostoses are those conditions that have additional manifestations (craniofacial and/or extracraniofacial deformities). In addition to craniosynostosis, these children also have fusion of the sutures or bones in the cranial base and midface, and shallow eye sockets. This gives the appearance of a flat midface and eyes which protrude. Children with Apert Syndrome have syndactaly (webbing) of the hands and feet. Crouzon Syndrome may be transmitted as an autosomal dominant genetic condition or appear as a fresh mutation (no affected parents). The appearance of an infant with Crouzons can vary in severity from a mild presentation with subtle midface characteristics to severe forms with multiple cranial sutures fused and marked midface and eye problems.

The general features of a child with Apert syndrome are similar to those in Crouzon syndrome however there is not as much variability between cases and the degree of presentation is more severe. Mental and developmental delay is present to varying degrees.
More about 
Craniofacial Syndrome
Treatment in infancy is directed at correction of the suture fusion and resultant misshapen head. Surgical treatment of the mid-face deformity is usually done during the pre-school period (age 4-6 yrs). Conventional surgical advancement of the mid-face requires numerous cuts of the facial bones and advancing the mid-face region to a predetermined level. This usually requires bone grafts. Plates and screws are used to stabilize the new position. The past several years have seen a significant increase in treatment using a technique called Osteogenic Distraction. The same surgical boney cuts are performed and an expansion device is inserted, where by gradual advancement of the mid-face region can be obtained. Research has indicated this may provide a more stable correction.
cleft lip categories- left unilateral and bilateral cleft
Craniofacial syndrome or craniosynostosis is a complex condition and can severely affect the growth of a child. If not treated at proper time, it generally causes permanent disability. However, with advanced surgical techniques, it has become possible to treat such complex conditions with minimal morbidity.
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