IllnessCrouzon syndrome

NGS +

Crouzon syndrome is characterized by premature craniosynostosis. The early bone fusion prevents normal growth of the skull, affects the shape of the head as well as the face, and leads to hypertelorism, bulging eyes and visual problems due to shallow eye sockets, strabism, a peculiar nose shape and underdeveloped upper jaws. Patients with Crouzon syndrome may have dental problems, hearing loss (narrow ear canals) and cleft lip and palate. The severity of these symptoms varies among affected individuals; however, they are usually normally intelligent. Mutations in the FGFR2 gene cause Crouzon syndrome. These mutations lead to the production of an FGFR2 protein with overactive signaling function. The disease is inherited in an autosomal dominant manner. Other specific FGFR2 mutations cause several other syndromes: Antley-Bixler syndrome without genital abnormalities or impaired steroid genesis, Apert, Bent bone dysplasia and Beare-Stevenson syndrome, craniofacial-skeletal-dermatologic dysplasia, nonspecific craniosynostosis, Jackson-Weiss, LADD, Pfeiffer, and Saethre-Chotzen syndromes, scaphocephaly + Axenfeld-Rieger anomaly, and scaphocephaly, maxillary retrusion with mental retardation. The differential diagnosis of Crouzon syndrome includes about a dozen and a half other genes. Syndromal cases of craniosynostosis can be confirmed by with high genetic diagnostic yield (>80%). Nevertheless, a negative test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1455/

• Sympt.: Craniosynostosis, midfacial hypoplasia, foot abnormalities
• Alias name: Craniofacial dysostosis, type I
• Alias name: Crouzon craniofacial dysostosis
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Apert syndrome (FGFR2)
• Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Allelic: Bent bone dysplasia syndrome (FGFR2)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia
• Allelic: Craniosynostosis, nonspecific (FGFR2)
• Allelic: FGFR2-related isolated coronal synostosis (FGFR2)
• Allelic: Jackson-Weiss syndrome (FGFR2)
• Allelic: LADD syndrome (FGFR2)
• Allelic: Lacrimo-auricolo-dento-digital syndrome (FGFR2)
• Allelic: Pfeiffer syndrome (FGFR2)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly, maxillary retrusion, mental retardation (FGFR2)
• Crouzon craniofacial dysostosis (FGFR2)