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Escobar Syndrome

Escobar syndrome is a common name for the non-lethal form of Multiple Pterygium syndrome, a highly rare congenital disorder that causes webbing of the skin around joints and reduces fetal movement. This can result in restrictions of joint movement- a condition called arthrogryposis, small stature and facial deformities. Scoliosis, respiratory problems such as asthma, and other secondary problems may arise, although not in every case. Escobar syndrome is passed on by an autosomal recessive pattern, which means both parents must carry the mutated gene. It is normal for neither parent to show any sign or symptom of the disorder (GHR.gov).

What this actually means is a person with Escobar syndrome was born with it, they’re going to be shorter than you’re expecting, and their arms and legs will not move the same way yours do all the time. More than likely, a person with Escobar is going to have trouble breathing as well as others, will not be able to walk long distances carrying heavy things, and probably has a curve in their spine somewhere.

There is no cure, fix or solution to Escobar syndrome, but there are many surgical procedures that improve the quality of life of those living with the disorder. After birth, the condition does not worsen and nor does it prevent a normal life expectancy. Due to the rarity of the disorder, there are no known figures for the number of people with Escobar (GHR.gov). Thanks to the power of social media, awareness and outreach for people with Escobar is growing at a rate this author hasn’t seen before.

This summary is not intended as a complete medical explanation, but as a way of explaining Escobar syndrome in layman’s terms. As new information comes to light, revisions will be made with as much transparency as possible. More information can be found at the cited source below.

National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; 2015 April 7. Multiple Pterygium Syndrome; [reviewed 2011 Nov; cited 2015 April 13]; [about 2 screens]. Available from: http://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome