Syndromic Scoliosis

Syndromic scoliosis is when scoliosis develops as a symptom. Some syndromes that can pave the way for the curvature of the spine to occur include connective tissue disorders like Marfan’s and Ehlers-Danlos syndrome, trisomy 21 (Down syndrome), Prada-Willi, Retts syndrome and Beals syndrome. Possessing any of these syndromes could cause scoliosis to develop. In such cases, scoliosis is just one condition that patients must treat as part of their syndrome.

· Marfan syndrome is a genetic disorder that affects connective tissue. Those who have it tend to be thin and tall with long limbs. On top of having scoliosis, they may also have overly-flexible joints.

· Ehlers-Danlos syndrome also affects the connective tissue in the body and weakens it. Other symptoms include thinning and bruising of the skin, as well as weakening of blood vessels and organs.

· Down syndrome is a genetic disorder caused by the existence of a third copy of chromosome 21 (hence its name of trisomy 21). Other symptoms include some levels of intellectual disability, physical growth delays, and characteristic facial features.

· Prada-Willi syndrome is caused by the loss of the function of genes associated with chromosome 15. Symptoms in babies include weak muscles, low levels of feeding, and slower development. As they grow older, they experience constant hunger and may develop type 2 diabetes.

· Rett syndrome is a neurological disorder most common in girls and affects their ability to speak, walk, eat and breathe.

· Beals syndrome is similar to Marfan syndrome as it also affects joints. It also leads to reduced bone mass and facial abnormalities.

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Sources:

https://www.sauk.org.uk/information-sheets/syndromic-scoliosis-information-sheet

https://www.webmd.com/a-to-z-guides/ehlers-danlos-syndrome-facts#1

https://www.marfan.org/beals-syndrome