Varadi–Papp syndrome
Varadi–Papp syndrome (also known as oral-facial-digital syndrome type VI or OFDS VI) is a rare genetic disorder characterized by a combination of medical and physical abnormalities. The syndrome was first described by Lajos Varadi and Istvan Papp in 1980, hence the name.
Symptoms and Signs[edit | edit source]
The symptoms of Varadi–Papp syndrome can vary greatly among affected individuals. However, common features include polydactyly (extra fingers or toes), cleft palate or split uvula, tongue abnormalities, and intellectual disability. Some individuals may also have nystagmus (involuntary eye movement), strabismus (crossed eyes), and retinal degeneration leading to vision loss.
Causes[edit | edit source]
Varadi–Papp syndrome is caused by mutations in the TTC21B gene. This gene provides instructions for making a protein that is involved in the structure and function of cilia, which are small, hair-like structures that project from the surface of cells and are involved in cell movement and sensory perception.
Diagnosis[edit | edit source]
Diagnosis of Varadi–Papp syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the TTC21B gene.
Treatment[edit | edit source]
There is currently no cure for Varadi–Papp syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational services for those with intellectual disability. Surgery may be necessary to correct physical abnormalities such as polydactyly or cleft palate.
Prognosis[edit | edit source]
The prognosis for individuals with Varadi–Papp 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]
Varadi–Papp syndrome is a rare disease.
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