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Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 degrees.. The deformity may develop in children with neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis.
Life expectancy is generally normal. [3] It affects about one per million people. [1] Males and females are equally commonly affected. [5] Modern descriptions of the condition date to at least 1896. [6] The term is from cleido 'collarbone', cranial from Greek κρανίο 'skull', and dysostosis 'formation of abnormal bone'. [7]
Calciphylaxis, also known as calcific uremic arteriolopathy (CUA) or “Grey Scale”, is a rare syndrome characterized by painful skin lesions.The pathogenesis of calciphylaxis is unclear but believed to involve calcification of the small blood vessels located within the fatty tissue and deeper layers of the skin, blood clots, and eventual death of skin cells due to lack of blood flow. [1]
Alport syndrome is a genetic disorder [1] affecting around 1 in 5,000–10,000 children, [2] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. [3] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
Better alternatives are Nocturnal or Daily Dialysis, which are far more gentle processes for the new dialysis patient. Dialysis disequilibrium syndrome is a reason why hemodialysis initiation should be done gradually, i.e. it is a reason why the first few dialysis sessions are shorter and less aggressive than the typical dialysis treatment for ...
[12] [15] Patients display muscle weakness and cerebellar and ocular malformations, with a life expectancy of less than 1 year. [ 9 ] [ 15 ] An additional dystroglycanopathy phenotype is Fukuyama congenital muscular dystrophy (FCMD) caused by a mutation in the Fukutin (FKTN) gene, which is the second most common type of muscular dystrophy in ...