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 What is Charcot-Marie-tooth disease (CMT)?
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CMT is a hereditary disease which affects the peripheral nerves (nerves in the hands and feet). It typically begins in the teens and causes difficulty walking, poor balance, clumsiness, foot and hand deformities and numbness and... Full Answer
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- Q What increases my risk for hypodontia and nail dysgenesis (HND)?
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The only known risk factor for hypodontia and nail dysgenesis (HND) is a family history of the disease. HND affects males and females in equal numbers. Witkop suggested the condition was more common among Dutch Mennonites in Canada than other... Full Answer
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- Q What increases my risk for Gorlin-Chaudhry-Moss (GCM) syndrome?
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Currently, the only known risk factor for Gorlin-Chaudhry-Moss (GCM) syndrome is a family history of the disease. GCM is believed to be inherited, or passed down among family members, as a recessive trait, meaning that two copies of the defective gene,... Full Answer
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- Q How can Rothmund-Thomson's syndrome be prevented?
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General: Because Rothmund-Thomson syndrome (RTS) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of RTS. Genetic testing and... Full Answer
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- Q What are complications of Rothmund-Thomson's syndrome?
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Cancer: Individuals with Rothmund-Thomson syndrome (RTS) are at increased risk for certain types of cancer, specifically bone and skin cancers. The type of bone cancer seen in patients with RTS is known as osteosarcoma and is marked by the growth of... Full Answer
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- Q What causes Rothmund-Thomson's syndrome?
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Inheritance: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder. About two-thirds of cases of RTS are caused by a mutation in the RECQL4 gene. The function of this gene is not well understood, but it may play a role in maintaining the... Full Answer
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- Q What is Rothmund-Thomson's syndrome?
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Rothmund-Thomson syndrome (RTS) is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These are... Full Answer
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- Q How can Rosselli-Gulienetti syndrome be prevented?
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General: Because Rosselli-Gulienetti syndrome (RGS) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of RGS.Genetic testing and... Full Answer
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- Q What is Rosselli-Gulienetti syndrome?
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Rosselli-Gulienetti syndrome (RGS) is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These are... Full Answer
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- Q What are the symptoms of Rosselli-Gulienetti syndrome?
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Cognitive: People with Rosselli-Gulienetti syndrome (RGS) often have intellectual disabilities.Face: People with RGS tend to have a cleft palate (an incomplete closure of the roof of the mouth), a cleft lip (an abnormal groove in the upper lip beneath... Full Answer
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