Varadi Syndrome-Orofaciodigital Syndrome VI
Kayla Hixson
El Paso Community College
Abstract
This paper explores scientific articles about Varadi Syndrome also known as Orofaciodigital Syndrome VI. This paper will include an introduction about the disease, including symptoms, what gene is involved, how the gene is inherited and which chromosome the gene is located on. The paper will also relate the genetic defect to an anatomical structure and or a physiological concept. It will also include any available cures, such as gene therapy or if prenatal diagnosis is available. Lastly, the paper will discuss future developments to improve the conditions.
Varadi Syndrome-Orofaciodigital Syndrome VI
Introduction
The discovery…show more content… Many people who have this usually have extra fingers or toes. The children may also have mouth abnormalities such as a cleft lip or palate and have abnormalities of the tongue such as tumors. The eyes can include a fold of skin over the central corners of the eyes and squinting or paralysis of the ocular muscles. The shape of the teeth are abnormal as well.
Orofaciodigital syndrome VI is caused by homozygous or compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13 (Kniffin, 2014). Orofaciodigital syndrome VI is passed from parent to offspring as an autosomal recessive trait. Both parents must carry one altered copy of the gene in their DNA. In order for the child to receive Orofaciodigital syndrome VI, both the sperm and egg must contain the same altered gene. The odds of having a child from parents who carry the gene are 1 in 4, also known as twenty-five…show more content… Physical therapy, breathing assistance, educational support and nutritional support may all be of aid (Orofaciodigital Syndrome, Type VI). There is no cure for Orofaciodigital syndrome VI, it is recommended that people who are diagnosed with this disease see a specialist to help with individual signs and symptoms. Surgical procedures can be done to correct a cleft lip or palate and any extra toes or fingers can be removed. Early diagnosis is necessary for proper genetic counseling. Treatments are mainly symptomatic and supportive with reconstructive surgery for correctable
