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

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

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

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

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

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

• Genetic disorders
• CDKN1C gene
• Physical therapy
• Occupational therapy
• Speech therapy

NIH genetic and rare disease info

• NIH info on Genée-Wiedemann syndrome

Genée-Wiedemann syndrome is a rare disease.

Genée-Wiedemann syndrome Resources
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