Genetic Disorders
A genetic disorder means that a baby is born with abnormal genes that have been passed down through the family or caused by environmental factors such as cigarette smoke.
Disorders can range from very minor mutations that cause no symptoms to very serious illnesses such as cystic fibrosis and cancer.
If you have a genetic defect that runs in your family, ask your doctor about genetic screening and counseling before you become pregnant.
Recently Answered
- Q When do symptoms of neurofibromatosis type 2 (NF2) appear?
-
Signs of neurofibromatosis type 2 (NF2) may be present in childhood but are so subtle that they can be overlooked, especially in children who don't have a family history of the disorder. Typically, symptoms of NF2 are noticed between 18 and 22 years of... Full Answer
1 Answer
A
- Q How is neurofibromatosis type 2 (NF2) diagnosed?
-
To diagnose neurofibromatosis type 2 (NF2), a doctor looks for bilateral vestibular schwannomas or a family history of NF2 (parent, sibling, or child) plus a unilateral vestibular schwannoma before age 30 or any two of the following: Glioma Meningioma... Full Answer
1 Answer
A
- Q What is neurofibromatosis type 2 (NF2)?
-
Neurofibromatosis type 2 (NF2) affects about 1 in 25,000 people. Approximately 50 percent of affected people inherit the disorder; in others, the disorder is caused by a spontaneous genetic mutation of unknown cause. The hallmark finding in NF2 is the... Full Answer
1 Answer
A
- Q How is neurofibromatosis type 1 (NF1) treated?
-
Scientists don't know how to prevent neurofibromas from growing. Surgery is often recommended to remove tumors that become symptomatic and may become cancerous, as well as tumors that cause significant cosmetic disfigurement. Several surgical options... Full Answer
1 Answer
A
- Q What is the prognosis for someone with neurofibromatosis type 1 (NF1)?
-
Neurofibromatosis type 1 (NF1) is a progressive disorder, which means most symptoms will worsen over time, although a small number of people may have symptoms that remain constant. It isn't possible to predict the course of an individual's disorder. In... Full Answer
1 Answer
A
- Q What are the symptoms of neurofibromatosis type 1 (NF1)?
-
To diagnose neurofibromatosis type 1 (NF1), a doctor looks for two or more of the following: Six or more light-brown spots on the skin (often called cafe-au-lait spots), measuring more than 5 mm in diameter in children or more than 15 mm in adolescents... Full Answer
1 Answer
A
- Q What causes focal dermal hypoplasia (FDH)?
-
Focal dermal hypoplasia (FDH) is caused by the following: Genetic mutations: Focal dermal hypoplasia (FDH) is caused by a mutation or defect in the PORCN gene. While the exact function of this gene is unknown, activity of the PORCN gene has been... Full Answer
1 Answer
A
- Q What causes dermoodontodysplasia?
-
Dermoodontodysplasia is believed to be an inherited disorder that is passed down in families. Dermoodontodysplasia is a form of ectodermal dysplasia, a group of disorders that affect the outer layer of a developing embryo. This layer, called the... Full Answer
1 Answer
A
- Q What causes dermotrichic syndrome?
-
Dermotrichic syndrome is believed to be caused by genetic mutations or defects. However, the exact gene or genes involved in this condition are currently unknown.X-linked inheritance: Dermotrichic syndrome is believed to be inherited, or passed down,... Full Answer
1 Answer
A
- Q What causes genetic disorders?
-
Genetic disorders are diseases caused by gene changes or mutations which interrupt the normal formation or correct functioning of the human body. These gene changes can be inherited from family members or happen for the first time in the affected... Full Answer
1 Answer
A
