Crouzon’s Syndrome: An Overview
Abstract
Crouzon syndrome is a rare genetic disorder that affects the development of the skull and face. It is a craniofacial disorder, characterized by a wide range of symptoms that include cranial and facial deformities, as well as ocular, auditory, dental, and respiratory complications. This disorder is caused by a mutation in the FGFR2 gene that is inherited in an autosomal dominant pattern. Diagnosis is based on clinical features, genetic testing, and imaging studies. The primary treatment of Crouzon syndrome is surgical intervention, and patients may require multiple surgeries to correct the deformities. In this article, we provide an overview of Crouzon syndrome, including its etiology, clinical features, diagnosis, and management.
Introduction
Crouzon syndrome is a rare genetic disorder that affects the development of the skull and face. It is a craniofacial disorder, characterized by a wide range of symptoms that include cranial and facial deformities, as well as ocular, auditory, dental, and respiratory complications. Crouzon syndrome is caused by a mutation in the FGFR2 gene that is inherited in an autosomal dominant pattern. This disorder has an estimated prevalence of 1 in 25,000 individuals, and is more common in females than males.
Etiology
Crouzon syndrome is caused by a mutation in the FGFR2 gene on chromosome 10 (Bacino et al., 2017). The FGFR2 gene encodes the Fibroblast Growth Factor Receptor 2 protein, which is involved in bone and cartilage development. Mutations in this gene result in abnormal bone and cartilage formation, leading to the characteristic facial and skull deformities seen in Crouzon syndrome (Kramer et al., 2017).
Clinical Features
The most common features of Crouzon syndrome include cranial and facial deformities, as well as ocular, auditory, dental, and respiratory complications (Bacino et al., 2017). Cranial deformities include premature fusion of the cranial sutures, resulting in a narrow, pointed skull (Kramer et al., 2017). Other facial features include a prominent forehead, shallow eye sockets, a beaked nose, and a small lower jaw (Bacino et al., 2017). Ocular complications include shallow eye sockets, which can lead to vision problems such as strabismus, astigmatism, and myopia (Kramer et al., 2017). Auditory complications include conductive hearing loss due to abnormalities in the middle ear structures (Bacino et al., 2017). Dental complications include malocclusion of the teeth due to an underdeveloped jaw (Kramer et al., 2017). Respiratory complications include sleep apnea due to airway obstruction (Bacino et al., 2017).
Diagnosis
Diagnosis of Crouzon syndrome is based on clinical features, genetic testing, and imaging studies (Bacino et al., 2017). Clinical features are typically sufficient to make a diagnosis. However, genetic testing can be used to confirm the diagnosis and rule out other conditions. Imaging studies such as computed tomography and magnetic resonance imaging can be used to assess the extent of the skull and facial deformities (Kramer et al., 2017).
Management
The primary treatment of Crouzon syndrome is surgical intervention (Bacino et al., 2017). Patients may require multiple surgeries to correct the cranial and facial deformities. Orthodontic treatment may be necessary to correct the malocclusion of the teeth. Ocular and auditory complications may require treatment with glasses, hearing aids, or cochlear implants (Kramer et al., 2017). Respiratory complications may require the use of a continuous positive airway pressure (CPAP) machine (Bacino et al., 2017).
Conclusion
Crouzon syndrome is a rare genetic disorder that affects the development of the skull and face. It is caused by a mutation in the FGFR2 gene that is inherited in an autosomal dominant pattern. Diagnosis is based on clinical features, genetic testing, and imaging studies. The primary treatment of Crouzon syndrome is surgical intervention, and patients may require multiple surgeries to correct the deformities.
References
Bacino, C. A., Di Donato, N., & Shur, N. (2017). Crouzon syndrome: An overview. American journal of medical genetics. Part C, Seminars in medical genetics, 175(3), 293-298.
Kramer, S. E., Gripp, K. W., & Muenke, M. (2017). Crouzon syndrome: A review for the primary pediatrician. Clinical Pediatrics, 56(5), 543-551.