is rathke cleft cyst hereditary?
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Is a Rathke cleft cyst a brain tumor? No, a Rathke cleft cyst is a fluid-filled pouch known as a cyst and not considered a true tumor. These cysts are believed to be congenital, meaning they are present at birth.
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But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.
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PAH can be hereditary or run in families. A gene called BMPR2 has been linked to familial pulmonary hypertension. Although the inheritence is autosomal dominant (one defective gene copy is enough to cause disease), only about 20% of patients with a bad gene copy develop the disease.
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Neck cysts are a common problem for infants and children, are usually benign masses, and may be present at birth. Common types are: Branchial cleft abnormalities: These tissues may form cysts (pockets that contain fluid) or fistulas (passages that drain to an opening in the skin surface).
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Inherited syndromes. A risk of soft tissue sarcoma can be inherited from your parents. Genetic syndromes that increase your risk include hereditary retinoblastoma, Li-Fraumeni syndrome, familial adenomatous polyposis, neurofibromatosis, tuberous sclerosis and Werner syndrome.
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Unilateral nevoid telangiectasia is relatively rare. It is generally not considered hereditary though one familial case has been described. The congenital form is more common in boys while the acquired form is more common in woman.
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Multicystic dysplastic kidney is NOT polycystic kidney disease (ADPKD or ARPKD). Polycystic kidney disease is inherited and both kidneys have cysts (collections of fluid) and don't work well.
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Some people who have inherited a germline VHL mutation never develop cancer. This is because they never get the second mutation necessary to knock out the function of the gene and start the process of tumor formation. This can make the cancer appear to skip generations in a family.
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Facial and Body Features And crooked teeth can be inherited too, because the configuration of the jaw and the tilt of the teeth are genetically determined. There's even a specific gene for "gap tooth" that's been discovered and is believed to be dominant.
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Family history. About 5% of brain tumors may be linked to hereditary genetic factors or conditions, including Li-Fraumeni syndrome, neurofibromatosis, nevoid basal cell carcinoma syndrome, tuberous sclerosis, Turcot syndrome, and von Hippel-Lindau disease.
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If a parent has a gene fault then each child has a 1 in 2 chance (50%) of inheriting it. So some children will have the faulty gene and an increased risk of developing cancer and some children won't.
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PKD runs in families. It is an inherited disorder that is passed from parents to children through genes. Genes are the basic elements of heredity. At conception, children receive a set of genes from each parent.
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There is no evidence that FASDs are genetic or hereditary. FASDs can only happen if a woman consumes alcohol during a pregnancy. A woman who has an FASD does not have greater risk of having a child with an FASD unless she consumes alcohol during her pregnancy.
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ADPKD does not skip a generation. If the gene is not inherited by an individual from one of his/her parents, then it is impossible for the disease to be passed on by that person to the next generation.
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The inherited variety of essential tremor (familial tremor) is an autosomal dominant disorder. A defective gene from just one parent is needed to pass on the condition. If you have a parent with a genetic mutation for essential tremor, you have a 50 percent chance of developing the disorder yourself.
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Inheritance Pattern Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development.
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Hereditary haemorrhagic telangiectasia (HHT) is an inherited genetic disorder that affects the blood vessels. It's also known as Osler-Weber-Rendu syndrome. People with HHT have some blood vessels that have not developed properly and sometimes cause bleeding, known as arteriovenous malformations (AVMs).