Tetanus

od strane | мар 31, 2023 | Bolesti

Tetanus is an infectious disease caused by the anaerobic bacterium Clostridium tetani and characterized by spasms and contractions of the skeletal muscles.

COG7-CDG

od strane | мар 31, 2023 | Bolesti

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died...

Ehrlichiosis

od strane | мар 31, 2023 | Bolesti

Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations....

Saccharopinuria

od strane | мар 31, 2023 | Bolesti

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

COG5-CDG

od strane | мар 31, 2023 | Bolesti

COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.

Pili torti

od strane | мар 31, 2023 | Bolesti

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes...

Anotia

od strane | мар 31, 2023 | Bolesti

Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language...