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 are the symptoms of dyskeratosis congenita (DKC)?
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Bone marrow failure: In some cases, the first symptom of DKC is bone marrow failure. Eventually, 90% of patients with DKC develop bone marrow failure. The bone marrow is the spongy tissue inside the bones that is essential for the production of new... Full Answer
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- Q How is Apert syndrome treated?
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Physical therapy: Physical therapy may help people with syndactyly (webbing or complete joining of fingers and/or toes) improve the function of their hands and feet. A variety of techniques, including exercises, stretches, traction, electrical... Full Answer
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- Q How is Apert syndrome diagnosed?
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General: Apert syndrome may be diagnosed based on the patient's physical signs and symptoms. Apert syndrome is indicated if an X-ray of the skull shows that the bones have fused early and the fingers and toes are webbed or fused together. X-rays of the... Full Answer
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- Q Can Rett syndrome be prevented?
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Today, the answer is no. In nearly all cases, a spontaneous mutation of the MECP2 gene causes Rett syndrome. Because there is no apparent cause for this mutation, there is no known way to prevent it. Prevention is not possible currently, but research is... Full Answer
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- Q How is Rett syndrome diagnosed?
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Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development and by conducting ongoing evaluations of the child's physical and neurological status. Scientists have developed a genetic test to... Full Answer
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- Q What are the various causes of Rett syndrome?
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Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2 (MECP2) (pronounced as meck-pea-two) gene. Scientists identified this gene-which is believed to control the functions of many other genes-in 1999. The MECP2... Full Answer
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- Q What is Rett syndrome?
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Rett syndrome is an uncommon though serious genetic disorder that typically occurs only in girls. This syndrome is part of the group of disorders known as autism spectrum disorders. After months of seemingly normal development, symptoms of Rett syndrome... Full Answer
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- Q What causes Peutz Jeghers syndrome?
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Genetic mutations: Peutz Jeghers syndrome (PJS) is usually caused by mutations or defects in the serine/threonine kinase 11 gene (STK11 or STK11/LKB1), which provides instructions for making the STK11 protein. The STK11 gene plays a role in the... Full Answer
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- Q What are the treatments for Niemann-Pick (NP) disease?
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There is currently no effective treatment for Type A Niemann-Pick (NP) disease. Bone marrow transplantation has been attempted in a few patients with Type B NP disease, and encouraging results have been reported. The development of enzyme replacement and... Full Answer
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- Q What is Niemann-Pick (NP) disease?
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Niemann-Pick (NP) disease refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the... Full Answer
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