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Related to Escobar syndrome: arthrogryposis, pterygium, multiple pterygium syndrome
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Leonie Saffy of Ruabon suffers from Escobar Syndrome, which prevents her muscles, bones, and ligaments from growing as they should.
Leonie has suffered from birth from the rare and debilitating Escobar Syndrome, which disrupts the signal from the brain to the muscles, ligaments and tissues so the body doesn't develop properly.
ESCOBAR Syndrome is the milder form of an otherwise fatal congenital condition correctly known as Multiple pterygium syndrome.
Escobar Syndrome is usually caused be a mutation in the CHRNG gene which can be passed on to the unborn child when both parents are carriers although typically they will not show any signs and symptoms of the condition themselves and therefore be unaware that their offspring is at risk of the condition.
Anthony Bowen, 14, has Escobar Syndrome which means he is unable to walk because of constricted limb joints.