Sugarman syndrome
Sugarman syndrome
Sugarman syndrome (pronounced: suh-gar-man sin-drome) is a rare genetic disorder characterized by a variety of symptoms, including developmental delay, intellectual disability, and distinctive facial features.
Etymology
The syndrome is named after Dr. Joseph Sugarman, who first described the condition in the medical literature in the 1980s.
Symptoms
The symptoms of Sugarman syndrome can vary widely, but often include:
- Developmental delay: This refers to when a child does not reach their developmental milestones at the expected times. It can affect a child's motor skills, speech and language, social and emotional development, and cognitive skills.
- Intellectual disability: This is a term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child.
- Distinctive facial features: People with Sugarman syndrome often have a distinctive facial appearance, including a prominent forehead, wide-set eyes, a small nose with a broad nasal bridge, and a thin upper lip.
Causes
Sugarman syndrome is caused by mutations in a specific gene. The exact gene is not yet known, but it is believed to be an autosomal recessive condition, which means that both parents must carry a copy of the mutated gene in order for a child to be affected.
Diagnosis
Diagnosis of Sugarman syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Sugarman syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, occupational therapy, speech therapy, and educational support.
Related Terms
External links
- Medical encyclopedia article on Sugarman syndrome
- Wikipedia's article - Sugarman syndrome
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