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Keratitis–ichthyosis–deafness syndrome (KID syndrome), also known as ichthyosiform erythroderma, corneal involvement, and deafness, presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.
Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. [2] [4] [7] It is inherited in an autosomal dominant manner. [2]This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who ...
Barakat syndrome is a rare condition inherited as autosomal dominant trait. [5] [6]The defect in the majority of cases has mapped to chromosome 10p (Gene Map Locus: 10pter-p13 or 10p14-p15.1).
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain .
Pendred syndrome; Other names: Goiter-deafness syndrome [1]: The normal cochlea has 2 & a half turns, but, in Pendred Syndrome, there is abnormal partitioning (the central bony core is reduced in size and complexity)and a reduced number of turns leading to a Mondini cochlea which has a basal turn and a dilated apical turn (1 & a half turns).
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
This condition was first discovered in 1995 by Melberg et al. when they described 5 members of a 4-generation Swedish family where cerebellar ataxia and sensorineural deafness presented as an autosomal dominant trait, 4 of them had narcolepsy and 2 had diabetes mellitus. The oldest members had psychiatric symptoms, neurological anomalies, and ...