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DOORS syndrome is a rare autosomal recessive disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. The major causes include TBC1D mutation and genetic factors. Here, we discuss the characteristic clinical features, diagnostic criteria, genetic aspects, treatment modalities and medicolegal implications such as forensic Identification, Intellectual disability, Informed Consent, Epilepsy and driving associated with patients with DOORS syndrome.
An electronic search was made in the databases of the search library PubMed and Wiley online library as a preliminary analysis. Articles written in the English language and published between the year 2013 and 2022 were included in the review.
Discussion: genetic insights, including chromosomal abnormalities. Genetic mutations of truncating variants are discussed, diagnostic criteria and tests, supportive therapy and medicolegal implications such as forensic identifications, intellectual disability, informed consent for medical and surgical procedures are also discussed in detail.
Conclusion: The TBC1D24 mutation appears to be a major cause of DOORS syndrome. More research is needed to determine the functional relationship between TBC1D24 and V-ATPase, and its impact on neurons and cerebral development. Neurological examinations and imaging such as EEGs, regular hearing and ophthalmologic tests can improve patient's quality of life. Affected individuals and their families will also benefit from speech therapy, physical therapy, genetic counselling, and special remedial education. Early detection and intervention will benefit the children affected with DOORS syndrome to have better quality of life.