Juberg-Marsidi Syndrome synonyms
What other names are the Juberg-Marsidi Syndrome known by? Synonyms and other terms with which Juberg-Marsidi Syndrome is known.
Juberg-Marsidi Syndrome, also known as Intellectual Disability-Short Stature-Facial Anomalies Syndrome, is a rare genetic disorder characterized by a combination of intellectual disability, short stature, and distinctive facial features. It was first described by Juberg and Marsidi in 1980.
Individuals with Juberg-Marsidi Syndrome typically have mild to moderate intellectual disability, which affects their cognitive abilities and learning potential. They may have difficulties with language development, problem-solving, and abstract thinking. However, the severity of intellectual disability can vary among affected individuals.
Short stature is another common feature of Juberg-Marsidi Syndrome. Individuals with this condition tend to be shorter than average, with a height below the 3rd percentile for their age and gender. The growth delay usually becomes apparent during early childhood and persists into adulthood.
The distinctive facial features associated with Juberg-Marsidi Syndrome include a prominent forehead, widely spaced eyes (hypertelorism), a flat nasal bridge, a thin upper lip, and a small chin. These facial characteristics can vary in severity among affected individuals.
Other signs and symptoms that may be present in individuals with Juberg-Marsidi Syndrome include delayed motor development, behavioral abnormalities such as hyperactivity or attention deficit hyperactivity disorder (ADHD), seizures, and gastrointestinal issues such as constipation or feeding difficulties.
Juberg-Marsidi Syndrome is caused by mutations in the UBR1 gene, which plays a role in protein degradation and regulation. This gene is located on the X chromosome, and Juberg-Marsidi Syndrome follows an X-linked recessive inheritance pattern. This means that the condition primarily affects males, while females are typically carriers of the gene mutation.
There is currently no cure for Juberg-Marsidi Syndrome, and treatment focuses on managing the individual's specific symptoms and providing support for their developmental and educational needs. This may involve early intervention programs, special education services, speech therapy, occupational therapy, and behavioral interventions.
