Orofaciodigital syndrome 6

Varadi Papp syndrome

Overview

Type of disease: Genetic, autosomal recessive | Rare conditions

Varadi-Papp syndrome is one of a group of oral-facial-digital syndromes (OFD) when a part of the brain known as the cerebellar vermis does not form correctly. Varadi Papp syndrome can present with many different physical traits and each child may be affected differently. Features often include cleft lip or palate, lumps on the tongue, extra skin tissue in the mouth, abnormally shaped or missing teeth, extra fingers and toes, poor growth or short stature, and facial differences most often affecting the eyes including strabismus (muscular problem in the eyes), wide-set eyes (hypertelorism) and an extra fold of skin at the inside corner of the eyes (epicanthal folds). An underdeveloped brain and variable intellectual disability or developmental delays are also common. Other less common findings may include abnormalities of the heart, genitalia, liver, kidneys, breathing difficulties, and muscular problems.

Varadi-Papp syndrome is a genetic disorder and results from a mutation or error in a person’s DNA or genes. It is inherited in an autosomal recessive manner. Typically people have two copies of every gene. Recessive means that both copies of the gene responsible for causing Varadi-Papp must have an error for the individual to be affected or have the condition. Genetic counseling can help in understanding the genetics, recurrence risks and more about the condition and available resources.

Varadi-Papp syndrome is set apart from other types of OFD syndromes by a Y-shaped bone in one or more fingers or toes which can be seen on x-ray. While there is currently no cure for Varadi Papp syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care. Research is ongoing, so talk with your child’s doctor about the most current treatment options. Support groups are also good sources of support and information.

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