About Mandibulofacial Dystosis:
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Common and Scientific Names: Treacher Collins Syndrome, Franceschetti-Zwahlen-Klein syndrome, Treacher Collins-Franceschetti syndrome, and zygoauromandibular dysplasia
Explanation of the disorder and where the gene is found: Mandibulofacial Dystosis with MFDM (microcephaly), which is caused by mutations in the EFTUD2 gene, causes some abnormalities in the main head and face regions. This syndrome was named after the British ophthalmologist Edward Treacher Collins. However, features of this syndrome were discovered by Berry later on who is usually given the credit for the discovery. In Europe, this syndrome is commonly called Franceschetti-Zwahlen-Klein based on the studies by a swiss ophthalmologist Franceschetti in 1949. Treacher Collins syndrome, has no cure but affected people can undergo surgery to help with appearance and improvement of speech.
Treatment: genetic counselling, hearing aids, dental work, speech therapy, and surgery
Symptoms of the disorder: Abnormally large or small head and bone development failure, hearing loss, coloboma, cleft palate, abnormal ear shape, delayed eruption and crowded teeth, airway and swallowing inadequacies (at birth), micrognathia, large mouth.
Complications associated with the disorder: Feeding Problems, Breathing Problems, Speech Problems, Learning Problems, Dry Eye Syndrome, and Psychological Problems
Inheritance: Parents of the offspring with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Autosomal recessive inheritance means both copies of the gene in each cell have mutations.