Ultimately, facial reconstructive surgery is needed. Hearing Loss are the primary concerns in the first few years of life. Clinical presentation may occur at birth or as a gradual loss of hearing with age, including a short-term or sudden loss at any point. Management of the airway Airway ABCDE Assessment, feeding ability, and hearing loss Hearing loss Hearing loss, also known as hearing impairment, is any degree of impairment in the ability to apprehend sound as determined by audiometry to be below normal hearing thresholds.
Diagnosis is confirmed with genetic testing Genetic Testing Detection of a mutation genotype karyotype or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. Treacher Collins syndrome is strictly a physical disease and does not affect cognition or other spheres of development. Treacher Collins syndrome is also referred to as mandibulofacial dysostosis or Franceschetti syndrome and is characterized by significant craniofacial deformities and conductive hearing loss Hearing loss Hearing loss, also known as hearing impairment, is any degree of impairment in the ability to apprehend sound as determined by audiometry to be below normal hearing thresholds. Autosomal Recessive and Autosomal Dominant Inheritance inheritance. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Treacher Collins syndrome is a rare genetic condition with autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes.
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