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Crouzon Syndrome

by | Mar 26

Crouzon Syndrome is a genetic syndrome that cause facial malformations. It occurs in 1 in 60,000 births annually. This submission provides specific details about the syndrome and the treatments required to address the syndrome.

Overview of Crouzon Syndrome
Approximately 1 in 33 babies are born with birth defects in the United States (Centers for Disease Control and Prevention [CDC], 2009), and 1 in 6,800 infants have orofacial/craniofacial deformities, or facial soft tissue and bone malformations (Yazdy, Honein, Rasmussen & Frias, 2007). Although annual incidence variation exists, these rough estimates offer a glimpse into the frequent occurrence of facial deformities in children in the United States. Among frequently occurring facial malformations, the most common abnormalities are clefts, such as cleft lip and palate anomalies that occur in roughly 1 in 700 annual births in the United States (CDC, 2009). However, in some cases clefts arise as an extension of other complex medical conditions comprised of a broad spectrum of craniofacial anomalies, or deformities of the head and face, often inherited through genetic means (Mosby’s Dental Dictionary, 2007). Consequently, numerous craniofacial anomalies are present in more rare, less publicly recognized syndromes, like Crouzon Syndrome and Apert Syndrome, which occur in an average of 1 in 60,000 and 1 in 65,000 respectively (Chen, 2009a; Chen, 2009b).
Among rare, existing craniofacial syndromes, Crouzon Syndrome is one of the most common conditions (National Institutes of Health [NIH], 2008), occurring in 16 per 1 million live births (NIH, 2008). The syndrome is often genetically inherited by parents with the condition, but gene mutations can create a new variation of the condition in a family with no known history of the syndrome (CCA, 2005). Because of frequent anomaly variation, craniofacial anomalies expressed in Crouzon’s may range in number and severity from child to child. Babies with the syndrome often experience premature closure of the skull base and abnormal fusing of the jaw, mid face, and eye orbits, resulting in an abnormally-shaped head and distinct facial malformations (Chen, 2009). The earlier the skull and facial bones close and fuse together, the more severe the anomalies will be.
Though there is a wide range in severity, most affected individuals share common dysmorphic facial features, such as a high and wide forehead, wide-set, sunken eyes, fallen eyelids, beaked nose, shortened upper lip, and narrow/high-arched palate; in some cases cleft lip and palate or ear malformations may occur, and in 5% of this population, dark, skin lesions may develop during infancy.
As a result of craniofacial anomalies, individuals living with Crouzon Syndrome may experience accompanying health issues, including hearing loss, difficulty breathing, and/or speech impediments (CCA, 2005). When premature closure of skull bones arises, increased intracranial pressure (pressure on the brain) may produce headaches and failing vision (Chen, 2009; Matusiak & Szybejko-Machaj, 2008). In the most severe cases, seizures and/or mental retardation may develop in young children. Yet despite the frequency of premature skull closure, surgical intervention has been able to limit the occurrence of mental retardation to 12% of cases in the United States (Chen, 2009a); this statistic means that an estimated 88% of those with Crouzon Syndrome demonstrate normal intellectual capacity.
Crouzon Syndrome Interventions and QOL
To address existing health barriers, the medical community offers surgical and …

This submission provides an overview of the epidemiological data for the occurrence of Crouzon Syndrome and the treatments required to address syndrome-related issues.

  

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