Wiedemann-Steiner Syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by distinctive facial features, intellectual disability, and developmental delays. Individuals with this syndrome often have a prominent forehead, widely spaced eyes, a broad nasal bridge, and a short philtrum (the area between the nose and upper lip).
Intellectual disability is a common feature of Wiedemann-Steiner Syndrome, with affected individuals typically experiencing mild to moderate cognitive impairment. Developmental delays may also be present, affecting motor skills and speech development.
Other physical characteristics may include short stature, joint limitations, and skeletal abnormalities. Some individuals may have heart defects or kidney problems.
Wiedemann-Steiner Syndrome is caused by mutations in the KMT2A gene, which plays a role in regulating gene activity. This gene mutation is usually not inherited and occurs randomly. Diagnosis is typically made through genetic testing.
Management of Wiedemann-Steiner Syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. Early intervention programs, speech therapy, and educational support can help improve developmental outcomes. Regular medical monitoring is important to address any associated health issues.
by Diseasemaps