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Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder . Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. [ 1 ]
Creutzfeldt–Jakob disease (CJD), also known as subacute spongiform encephalopathy or neurocognitive disorder due to prion disease, is a fatal neurodegenerative disease. [4] [1] Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances. [4]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Jacobsen syndrome; Beals syndrome [8] Blau syndrome; Freeman–Sheldon syndrome; Cerebrohepatorenal syndrome; Weaver syndrome; Christianson syndrome; Gordon syndrome; Jaccoud arthropathy; Lenz microphthalmia syndrome; Marshall–Smith–Weaver syndrome; Oculo-dento-digital syndrome; Tel Hashomer camptodactyly syndrome; Toriello–Carey syndrome ...
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [ 2 ] These may include being taller than average and an increased risk of learning disabilities .
The result is sweating along the cheek with the consumption of foods (Frey's syndrome). Treatment involves the application of an antiperspirant or glycopyrrolate to the cheek, Jacobsen's neurectomy along the middle ear promontory, and lifting of the skin flap with the placement of a tissue barrier (harvested or cadaveric) to interrupt the ...
Hidrotic ectodermal dysplasia (alopecia congenita with keratosis palmoplantaris, Clouston syndrome, Clouston's hidrotic ectodermal dysplasia, Fischer–Jacobsen–Clouston syndrome, keratosis palmaris with drumstick fingers, palmoplantar keratoderma and clubbing)
Treatment is guided by the severity and specific cause of the disease. Treatment focuses on eliminating the underlying problem, whether that means discontinuing drugs suspected to cause it or treating underlying sepsis. Diagnosis and treatment of serious thrombocytopenia is usually directed by a hematologist.