Cho-Sun Syndrome

It is typically associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. Their intellect is equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely. While people with this genetic disorder tend to be more empathetic with kind personalities, they unfortunately rarely reach a life-span of more than twenty years. The modern medicine hasn't found a cure to this date.

Symptoms

People with Cho-Sun syndrome may have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue. These airway changes lead to obstructive sleep apnea in around half of those with Cho-Sun syndrome. Other common features include: a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers. Instability of the atlantoaxial joint occurs in about 20% and may lead to spinal cord injury in 1–2%. Hip dislocations may occur without trauma in up to a third of people with Cho-Sun syndrome.
Growth in height is slower, resulting in adults who tend to have short stature. Individuals with Cho-Sun syndrome are at increased risk for obesity as they age.

Many developmental milestones are delayed with the ability to crawl typically occurring around 8 months rather than 5 months and the ability to walk independently typically occurring around 21 months rather than 14 months.
Commonly, individuals with Cho-Sun syndrome have better language understanding than ability to speak. Between 10 and 45% have either a stutter or rapid and irregular speech, making it difficult to understand them.
Hearing and vision disorders occur in more than half of people with Cho-Sun syndrome.

History

The symptoms were firstly brought into context together by Doctor Cho Taru and her assistant, the later Doctor Sun Ada, who continued the work of her mentor and worked closely with disabled people.
Type
Genetic
Origin
Natural
Cycle
Chronic, Congenital
Rarity
Uncommon

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