Young Simpson syndrome

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Young Simpson Syndrome

Young Simpson Syndrome (pronunciation: yuhng simp-suhn sin-drohm) is a rare genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability. The syndrome was first described by Young and Simpson in 1987.

Etymology

The syndrome is named after the two Scottish pediatricians, Dr. David Young and Dr. Ian Simpson, who first described the condition in 1987.

Symptoms

The main symptoms of Young Simpson Syndrome include:

  • Facial Dysmorphism: Distinctive facial features such as a broad nasal bridge, wide-set eyes, and a small mouth with a thin upper lip.
  • Growth Retardation: Affected individuals often have low birth weight and continue to grow at a slower rate than their peers.
  • Intellectual Disability: Most individuals with Young Simpson Syndrome have some degree of intellectual disability, ranging from mild to severe.

Causes

Young Simpson Syndrome is believed to be caused by mutations in a gene, although the specific gene has not yet been identified. It is thought to be inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations for the individual to be affected.

Diagnosis

Diagnosis of Young Simpson Syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Young Simpson Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other interventions to help manage the symptoms and improve quality of life.

See Also

External links

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