Genée-Wiedemann syndrome
Genée-Wiedemann syndrome is a rare genetic disorder characterized by a variety of physical abnormalities. The syndrome is named after the two scientists, Dr. Robert Genée and Dr. Hans-Rudolf Wiedemann, who first described the condition in the medical literature.
Symptoms and Signs[edit | edit source]
The symptoms of Genée-Wiedemann syndrome can vary greatly from one individual to another. Common symptoms include craniofacial abnormalities, limb malformations, and intellectual disability. Some individuals may also have hearing loss, vision problems, and heart defects.
Causes[edit | edit source]
Genée-Wiedemann syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the CDKN1C gene disrupt the normal function of this protein, leading to the various symptoms associated with Genée-Wiedemann syndrome.
Diagnosis[edit | edit source]
Diagnosis of Genée-Wiedemann syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, imaging studies, and physical examination.
Treatment[edit | edit source]
There is currently no cure for Genée-Wiedemann syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy. In some cases, surgery may be necessary to correct physical abnormalities.
Prognosis[edit | edit source]
The prognosis for individuals with Genée-Wiedemann syndrome varies depending on the severity of symptoms. With appropriate treatment and support, many individuals with this condition can lead fulfilling lives.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Genée-Wiedemann syndrome is a rare disease.
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