Jacob is an aspiring person. He plays just like any other sports enthusiast. He pretends to be anyone from Lightning McQueen to Superman. His smile will capture your heart and his precious giggles will soften the hardest of souls.
Jacob is a Little Person!- And One in a Million at that!
Jacob was born with a special genetic mutation known as Opsismodysplasia. This is a very rare form of dwarfism that effects less than 1:1,000,000 people worldwide.
(Jacob has fun pulling a little red wagon at the local Farmers’ Market)
What is Opsismodysplasia?
Opsismodysplasia is a very rare disorder, and is estimated to occur in less than 1 in 1,000,000 people. It is a type of skeletal dysplasia. It is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. There is not a lot known about Opsismodysplasia because many of the children who have this either die shortly after birth or within the first few years of life due to respiratory and other complications.