SYNDROMES

Hypermobility Syndrome

What is Hypermobility Syndrome? Hypermobility syndrome is a term used to describe overly mobile joints which occurs as a result of the protein collagen being more flexible than usual. Hypermobility varies on a spectrum of different severities, some with more  serious complications these include Ehlers Danlos Syndrome and Marfans syndrome. The other end of the…

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Genetic and Metabolic Syndromes

What are Genetic and Metabolic Syndromes? Genetic and metabolic syndromes can be linked and can cover a range of conditions including Angelman’s syndrome, Cri du Chat and Prader Willi Syndrome. What causes these syndromes? Chromosomes are made up of genes which make up all proteins in the body, which promote development and growth, and carry…

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Rett Syndrome

What is Rett Syndrome? Rett syndrome is a neurological developmental disorder that almost exclusively affects girls.  Its characteristics are – normal early development which then slows, loss of purposeful movement of hands, distinctive hand movements, and problems with walking, seizures, severe language delay and intellectual disability. The cause of the disorder varies from child to…

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Angelman Syndrome

What is Angelman Syndrome? Angelman Syndrome is a rare neuro-genetic disorder. The syndrome is named after a British paediatrician who first described the syndrome in 1964. The syndrome is characterised by intellectual and developmental disability, jerky movements (especially hand flapping), unstable gait, sleep disturbances, seizures and a happy demeanour. Angelman Syndrome occurs in approximately 1…

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Down Syndrome

What is Down Syndrome? Down Syndrome or Trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Children with Down Syndrome share some physical features: Low muscle tone, or “hypotonia” A baby with Down Syndrome feels “floppy” or somewhat like a rag-doll when picked up. The…

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