Genetic Counseling Related Diseases & Conditions
Medical conditions are often related to other diseases and conditions. Our doctors have compiled a list of ailments related to the topic of Genetic Counseling. These conditions may be a cause or symptom of Genetic Counseling or be a condition for which you may be at increased risk.
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Colon Cancer
Colon cancer is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from...learn more »
In This Article
Colon Cancer Article
- Colon cancer facts
- What is cancer?
- What is cancer of the colon and rectum?
- What are the causes of colon cancer?
- What are the symptoms of colon cancer?
- What tests can be done to detect colon cancer?
- How can colon cancer be prevented?
- What are the treatments and survival for colon cancer?
- What is the follow-up care for colon cancer?
- What does the future hold for patients with colorectal cancer?
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Breast Cancer
Breast cancer is the most common cancer in women and the second most common cause of cancer death in women in the U.S. Symptoms...learn more »
In This Article
Breast Cancer Article
- Breast cancer facts
- What is breast cancer?
- What are the different types of breast cancer?
- What causes breast cancer?
- What are breast cancer risk factors?
- What are breast cancer symptoms and signs?
- How is breast cancer diagnosed?
- How is breast cancer staging determined?
- What is the treatment for breast cancer?
- What is the prognosis of breast cancer?
- Can breast cancer be prevented?
- What research is being done on breast cancer? Should I participate in a clinical trial?
- I may have breast cancer. What questions should I ask my doctor?
- Is the doctor sure I have breast cancer?
- What type of breast cancer do I have?
- What difference does a precise diagnosis make?
- What has been done to exclude cancer in other areas of the same breast or in my other breast?
- What type of medical team do I need for the most accurate diagnosis?
- Is my family history relevant to my breast cancer diagnosis?
- What other studies should be done on my tissue biopsy?
- How urgent is it that I make decisions and begin treatment?
- Should I stop taking hormone therapy (HT)?
- Even though my breast tumor does not have hormone receptors,
should I take tamoxifen to reduce the risk of a new tumor?
- I have a ductal carcinoma in situ (DCIS), a type of localized
cancer. Why have I been advised to have a mastectomy when other women with invasive cancer have
lumpectomies?
- Should I start chemotherapy before surgery?
- If I am advised to have a mastectomy, what are the risks and
benefits of immediate breast reconstruction?
- Should my lymph nodes be removed?
- What is a sentinel lymph node biopsy and what are its benefits and risks?
- Are there any other questions I should ask my doctor?
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Miscarriage
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th...learn more »
In This Article
Miscarriage Article
- What is a miscarriage?
- What causes a miscarriage, and what are the tests for the different causes?
- What does NOT cause miscarriage?
- Are there lifestyle factors associated with miscarriage?
- What are the symptoms of a miscarriage?
- What will the doctor look for during an examination with suspected
miscarriage?
- How is threatened abortion evaluated?
- What are common terms a woman might hear during evaluation for miscarriage?
- What treatment can a woman expect when she has had a miscarriage?
- When should a woman receive evaluation for underlying causes of pregnancy
loss?
- Can something be done to prevent future miscarriages?
- Miscarriage At A Glance
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Down Syndrome
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as...learn more »
In This Article
Down Syndrome Article
- What is Down syndrome?
- What are the chromosome basics of Down syndrome?
- How do the extra genes lead to Down syndrome?
- What are the risk factors for conceiving a child with Down syndrome?
- What are the characteristic features and symptoms of Down syndrome?
- What type of prenatal screening is available for Down syndrome?
- How is the diagnosis of Down syndrome made?
- What about cognitive impairment in Down syndrome?
- What other conditions are associated with Down syndrome?
- How is Down syndrome managed?
- What about early intervention and education for Down syndrome?
- What are the needs of infants and preschool children with Down syndrome?
- How do adolescents with Down syndrome develop?
- What should one expect for adults with Down syndrome?
- Do individuals with Down syndrome work?
- Where can I find clinical trials for Down syndrome?
- Down Syndrome At A Glance
- Where can I find more information about Down syndrome?
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In This Article
Huntington's Disease Article
- Introduction to Huntington's disease
- What causes Huntington's disease?
- How is Huntington's disease inherited?
- What are the symptoms and major effects of Huntington's disease?
- At what age does Huntington's disease appear?
- How is Huntington's disease diagnosed?
- What is presymptomatic testing?
- How is the presymptomatic test conducted?
- How does a person decide whether to be tested?
- Is there a treatment for Huntington's disease?
- What kind of care does an individual with Huntington's disease need?
- What community resources are available for Huntington's disease?
- What research is being done on Huntington's disease?
- How can I help?
- What is the role of voluntary organizations?
- Where can I get more information about Huntington's disease?
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Marfan Syndrome
Marfan syndrome is hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following...learn more »
In This Article
Marfan Syndrome Article
- Marfan syndrome facts*
- What is Marfan syndrome?
- What are the symptoms of Marfan syndrome?
- What causes Marfan syndrome?
- How is Marfan syndrome diagnosed?
- What types of doctors treat Marfan syndrome?
- What treatment options are available for Marfan syndrome?
- What are some of the emotional and psychological effects of Marfan syndrome?
- What research is being conducted on Marfan syndrome?
- Where can people find additional information about Marfan syndrome?
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In This Article
Ehlers-Danlos Syndrome Article
- What is Ehlers-Danlos syndrome?
- What are the types of Ehlers-Danlos syndromes?
- How is Ehlers-Danlos diagnosed?
- How are Ehlers-Danlos syndromes treated?
- Ehlers-Danlos At A Glance
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Pheochromocytoma
Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely...learn more »
In This Article
Pheochromocytoma Article
- What is a pheochromocytoma?
- What are the symptoms of a pheochromocytoma?
- What conditions are associated with
pheochromocytomas?
- What else can cause the symptoms of a
pheochromocytoma?
- How is pheochromocytoma diagnosis?
- How is a pheochromocytoma treated?
- What is the prognosis with a pheochromocytoma?
- Pheochromocytoma At A Glance
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In This Article
Wolff-Parkinson-White Syndrome Article
- What is Wolff-Parkinson-White syndrome?
- What are the symptoms of Wolff-Parkinson-White syndrome
- What are the complications of Wolff-Parkinson-White syndrome?
- What other heart conditions is Wolff-Parkinson-White syndrome associated with?
- How common is Wolff-Parkinson-White syndrome?
- What genes are related to Wolff-Parkinson-White syndrome?
- How do people inherit Wolff-Parkinson-White syndrome?
- Where can I find information about treatment for Wolff-Parkinson-White syndrome?
- What other names do people use for Wolff-Parkinson-White syndrome?
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Phenylketonuria
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood....learn more »
In This Article
Phenylketonuria Article
- What is phenylketonuria (PKU)?
- What are the symptoms of phenylketonuria?
- How common is phenylketonuria?
- What genes are related to phenylketonuria?
- How do people inherit phenylketonuria?
- What other names do people use for phenylketonuria?
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Beta Thalassemia
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of...learn more »
In This Article
Beta Thalassemia Article
- What are the thalassemias?
- What is beta thalassemia?
- What is the difference between thalassemia minor and major?
- What is Mediterranean anemia?
- What is the genetic pattern of inheritance of beta thalassemia?
- The diagnosis of thalassemia major and minor
- The treatment of thalassemia major
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In This Article
Sickle Cell Disease (Sickle Cell Anemia) Article
- What is sickle cell anemia?
- How is sickle cell anemia inherited?
- What conditions promote the sickling (distortion) of the red blood cells in sickle cell anemia?
- How is sickle cell anemia diagnosed?
- What are the symptoms and treatments of sickle cell anemia?
- What is the outlook (prognosis) for patients with sickle cell anemia?
- Sickle Cell Anemia At A Glance
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Ramsay Hunt Syndrome
Ramsay Hunt syndrome is an infection of a facial nerve that causes a red painful rash with blisters and facial paralysis. The...learn more »
In This Article
Ramsay Hunt Syndrome Article
- What is Ramsay Hunt syndrome? What causes it?
- What are the symptoms of Ramsay Hunt syndrome?
- How is Ramsay Hunt syndrome diagnosed?
- Is Ramsey Hunt syndrome contagious?
- How does Ramsay Hunt syndrome compare with Bell's palsy?
- How is Ramsay Hunt syndrome treated or prevented?
- What is the outlook (prognosis) for patients with Ramsay Hunt
syndrome?
- Where can I find more information about Ramsay Hunt syndrome?
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Cerebral Palsy
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral...learn more »
In This Article
Cerebral Palsy Article
- Cerebral palsy facts
- What is cerebral palsy?
- What are causes of cerebral palsy?
- What are symptoms and signs of cerebral palsy?
- What are the types of cerebral palsy?
- What is spastic cerebral palsy?
- What is dyskinetic cerebral palsy?
- What is ataxic cerebral palsy?
- What is dystonic cerebral palsy?
- What is choreoathetoid cerebral palsy?
- What is hypotonic cerebral palsy?
- What is mixed cerebral palsy?
- What other conditions are associated with cerebral palsy?
- How is a child evaluated for cerebral palsy?
- How is cerebral palsy treated?
- What are specific treatment plans for cerebral palsy?
- What is the long-term outlook for patients with cerebral palsy?
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In This Article
Amyotrophic Lateral Sclerosis (ALS) Article
- Amyotrophic lateral sclerosis facts*
- What is amyotrophic lateral sclerosis?
- Who gets ALS?
- What are the symptoms of ALS?
- How is ALS diagnosed?
- What causes ALS?
- How is ALS treated?
- What research is being done on ALS?
- How can I help research for ALS?
- Where can I get more information about ALS?
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Angelman Syndrome
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the...learn more »
In This Article
Angelman Syndrome Article
- Angelman syndrome facts*
- What is Angelman syndrome?
- What are the characteristics, signs, and symptoms of Angelman syndrome?
- Is there any treatment for Angelman syndrome?
- What is the prognosis for Angelman syndrome?
- What research is being done with Angelman syndrome?
- For more information
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Birth Defects
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the...learn more »
In This Article
Birth Defects Article
- What are birth defects?
- What causes birth defects?
- What are the different types of birth defects?
- What are the treatments for birth defects?
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Fragile X Syndrome
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People...learn more »
In This Article
Fragile X Syndrome Article
- Fragile X syndrome facts*
- What is Fragile X syndrome?
- What causes Fragile X syndrome?
- What keeps the FMR1 gene from producing FMRP in Fragile X syndrome?
- Human cells 101
- How many people are affected by Fragile X syndrome?
- How is Fragile X syndrome inherited?
- What are the signs and symptoms of Fragile X syndrome?
- Intelligence and learning
- Physical
- Social and emotional
- Speech and language
- Sensory
- Is there a cure for Fragile X syndrome?
- Are there treatments for Fragile X syndrome?
- Educational options
- Therapeutic options
- Medication options
- What are the options for adults who have Fragile X syndrome?
- What should I do if I find out someone in my family has Fragile X syndrome?
- What is being done to develop treatments or a cure for Fragile X syndrome?
- Where can I go for more information about Fragile X syndrome?
- References
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Genetic Disease
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include...learn more »
In This Article
Genetic Disease Article
- What is a genetic disease?
- What are the different types of inheritance?
- Single gene inheritance
- Multifactorial inheritance
- Chromosome abnormalities
- Mitochondrial inheritance
- What is the human genome?
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Alpha Thalassemia
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the...learn more »
In This Article
Alpha Thalassemia Article
- Alpha thalassemia facts*
- What is alpha thalassemia?
- What are the symptoms of alpha thalassemia?
- What are the types of alpha thalassemia?
- How common is alpha thalassemia?
- What genes are related to alpha thalassemia?
- How do people inherit alpha thalassemia?
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Achondroplasia
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications...learn more »
In This Article
Achondroplasia Article
- Achondroplasia facts
- What is achondroplasia?
- What are the characteristics of achondroplasia?
- How is achondroplasia diagnosed?
- What can be done for patients with achondroplasia?
- How is achondroplasia inherited?
- What if someone with achondroplasia has children?
- What if two people with achondroplasia have children?
- What gene causes achondroplasia?
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In This Article
Prader-Willi Syndrome Article
- What is Prader-Willi syndrome?
- What are the signs, symptoms, and physical features of
Prader-Willi syndrome?
- How common is, and what causes Prader-Willi syndrome?
- Can Prader-Willi syndrome be inherited?
- Where can I find information about treatment for Prader-Willi syndrome?
- Where can I find additional information about Prader-Willi syndrome?
- What other names do people use for Prader-Willi syndrome?
- What if I still have specific questions about Prader-Willi syndrome?
- Where can I find general information about genetic conditions?
- What glossary definitions help with understanding Prader-Willi syndrome?
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Gilbert Syndrome
Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when...learn more »
In This Article
Gilbert Syndrome Article
- What is Gilbert syndrome?
- What causes Gilbert syndrome?
- What are the symptoms of Gilbert syndrome?
- What is the treatment for Gilbert syndrome?
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Fabry Disease
Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in the...learn more »
In This Article
Fabry Disease Article
- What is, and what causes Fabry disease?
- What are the symptoms of Fabry disease?
- Is there any treatment for Fabry disease?
- What is the prognosis for Fabry disease?
- What research is being done on Fabry disease?
- For more information
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In This Article
Alpha-1 Antitrypsin Deficiency Article
- What is alpha-1 antitrypsin deficiency?
- What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin
deficiency?
- How common is alpha-1 antitrypsin deficiency?
- What genes are related to alpha-1 antitrypsin deficiency?
- How do people inherit alpha-1 antitrypsin deficiency?
- Where can I find information about treatment for alpha-1 antitrypsin
deficiency?
- What other names do people use for alpha-1 antitrypsin deficiency?
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MELAS Syndrome
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes....learn more »
In This Article
MELAS Syndrome Article
- What is MELAS?
- What causes MELAS?
- What are the symptoms of MELAS?
- How is MELAS diagnosed?
- When do people with MELAS develop symptoms?
- How is MELAS treated?
- Are there other mitochondrial diseases?
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In This Article
Charcot-Marie-Tooth-Disease Article
- What is Charcot-Marie-Tooth-disease?
- What are the symptoms of Charcot-Marie-Tooth-disease?
- What are the types of Charcot-Marie-Tooth-disease?
- What causes Charcot-Marie-Tooth-disease?
- How is Charcot-Marie-Tooth-disease diagnosed?
- How is Charcot-Marie-Tooth-disease treated?
- What research is being done on Charcot-Marie-Tooth-disease?
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Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with...learn more »
In This Article
Loeys-Dietz Syndrome Article
- What is Loeys-Dietz syndrome?
- What are the signs and symptoms of Loeys-Dietz syndrome?
- Is Loeys-Dietz syndrome inherited?
- What causes Loeys-Dietz syndrome?
- How is Loeys-Dietz syndrome diagnosed?
- How is Loeys-Dietz syndrome treated?
- Loeys-Dietz At A Glance
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Pick Disease
Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain....learn more »
In This Article
Pick Disease Article
- Frontotemporal dementia (Pick's disease) facts*
- What is frontotemporal dementia (Pick's disease)?
- What are the symptoms of frontotemporal dementia?
- Is frontotemporal dementia inherited?
- Is there any treatment for frontotemporal dementia?
- What is the prognosis (the outlook) for frontotemporal dementia?
- What research is being done on frontotemporal dementia?
- Where can I find more information about frontotemporal dementia?
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Usher Syndrome
There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major...learn more »
In This Article
Usher Syndrome Article
- What is Usher syndrome?
- Who is affected by Usher syndrome?
- What causes Usher syndrome?
- What are the characteristics of the three types of Usher syndrome?
- How is Usher syndrome diagnosed?
- Is genetic testing for Usher syndrome available?
- How is Usher syndrome treated?
- What research is being conducted on Usher syndrome?
- What are some of the latest research findings?
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Williams Syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. Features may include intellectual disability,...learn more »
In This Article
Williams Syndrome Article
- Williams syndrome facts*
- What is Williams syndrome?
- How common is Williams syndrome?
- What are the genetic changes related to Williams syndrome?
- Can Williams syndrome be inherited?
- What other names do people use for Williams syndrome?
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In This Article
Gardner's Syndrome (Familial Adenomatous Polyposis) Article
- What is familial adenomatous polyposis?
- How common is familial adenomatous polyposis?
- What genes are related to familial adenomatous
polyposis?
- How do people inherit familial adenomatous polyposis?
- Where can I find information about treatment for
familial adenomatous polyposis?
- What other names do people use for familial adenomatous
polyposis?
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Porphyria
Porphyria is a group of disorders that affect the nervous system, skin, or both. Porphyria is often an inherited condition that...learn more »
In This Article
Porphyria Article
- Porphyria facts*
- What is porphyria?
- What are the types of porphyria?
- What causes porphyria?
- What are the symptoms of porphyria?
- How is porphyria diagnosed?
- How is porphyria treated?
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Pregnancy Planning
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and...learn more »
In This Article
Pregnancy Planning Article
- Pregnancy Planning Facts
- What is pregnancy planning and why is it important?
- What are pregnancy symptoms?
- What is a pregnancy calculator and calendar?
- Who effective are home pregnancy tests?
- How can diet and nutrition affect early pregnancy?
- How does alcohol affect pregnancy?
- How do high blood pressure and diabetes affect pregnancy?
- What are examples of commonly-used medications that are dangerous in pregnancy?
- How do kidney and heart disease affect pregnancy?
- What infections affect pregnancy?
- What inherited (genetic) diseases can play a role in pregnancy planning?
- Is it safe to exercise during pregnancy?
- Can I travel by air during pregnancy?
- Can I have intercourse during pregnancy?
- How soon after stopping birth control can I become pregnant?
- How do we maximize our chances of becoming pregnant?
- Can I do something to help my chances of conceiving a boy or a girl?
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Noonan Syndrome
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in...learn more »
In This Article
Noonan Syndrome Article
- What is Noonan syndrome and what are the signs and
symptoms of this condition?
- How common is Noonan syndrome?
- What genes are related to Noonan syndrome?
- How do people inherit Noonan syndrome?
- Where can I find information about treatment for Noonan syndrome?
- What other names do people use for Noonan syndrome?
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Canavan Disease
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the...learn more »
In This Article
Canavan Disease Article
- What is Canavan disease?
- What causes Canavan disease?
- What are the symptoms of Canavan disease?
- Is there any treatment for Canavan disease?
- What is the prognosis for Canavan disease?
- What research is being done on Canavan disease?
- For more information
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Kidney Dysplasia
Kidney dysplasia is a condition in which one or both of a baby's kidneys do not develop normally. In kidney dysplasia, cysts...learn more »
In This Article
Kidney Dysplasia Article
- What is kidney dysplasia?
- How does kidney dysplasia happen?
- What causes kidney dysplasia?
- What are the signs or complications of kidney dysplasia?
- How is kidney dysplasia diagnosed?
- How is kidney dysplasia treated?
- What is the long-term outlook for a child with kidney dysplasia?
- Questions to ask the doctor
- Points to remember
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Gaucher Disease
Gaucher disease is caused by an inherited (genetic) defect in an enzyme glucocerebroside. Signs fo Gaucher disease include...learn more »
In This Article
Gaucher Disease Article
- What is Gaucher Disease?
- How common is Gaucher disease?
- What genes are related to Gaucher disease?
- How do people inherit Gaucher disease?
- Where can I find information about treatment for Gaucher disease?
- What other names do people use for Gaucher disease?
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In This Article
Malignant Hyperthermia Article
- Malignant hyperthermia facts*
- What is malignant hyperthermia?
- How common is
malignant hyperthermia?
- What genes are
related to malignant hyperthermia?
- How do people
inherit malignant hyperthermia?
- Where can I find information about diagnosis,
management, or treatment of malignant hyperthermia?
- What other names do people use for malignant hyperthermia?
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Pycnodysostosis
Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are...learn more »
In This Article
Pycnodysostosis Article
- What is pycnodysostosis?
- What is basis for the name of this disease?
- What are the characteristics of pycnodysostosis?
- How is pycnodysostosis inherited?
- What are the risks of pycnodysostosis?
- What is the molecular story with pycnodysostosis?
- Could there be a connection between pycnodysostosis and
osteoporosis?
- What is the treatment for pycnodysostosis?
- Pycnodysostosis At A Glance
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In This Article
Hutchinson-Gilford Progeria Syndrome Article
- Hutchinson-Gilford progeria syndrome facts*
- What is Hutchinson-Gilford progeria syndrome?
- What are the characteristics, signs, and symptoms of Hutchinson-Gilford
progeria syndrome?
- How common is Hutchinson-Gilford progeria syndrome?
- What genes are related to Hutchinson-Gilford progeria syndrome?
- How do people inherit Hutchinson-Gilford progeria syndrome?
- What are the complications and prognosis of people with Hutchinson-Gilford progeria syndrome?
- Where can I find information about diagnosis, management, or treatment of Hutchinson-Gilford progeria syndrome?
- Where can I find additional information about Hutchinson-Gilford progeria syndrome?
- What other names do people use for Hutchinson-Gilford progeria syndrome?
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In This Article
Treacher Collins Syndrome Article
- What is Treacher Collins syndrome?
- What are the signs and symptoms of Treacher Collins syndrome?
- What are the characteristics of Treacher Collins syndrome?
- How common is Treacher Collins syndrome?
- What genes are related to Treacher Collins syndrome?
- How do people inherit Treacher Collins syndrome?
- Where can I find information about diagnosis or management of Treacher Collins syndrome?
- What other names do people use for Tracher Collins syndrome?
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In This Article
Rothmund-Thomson Syndrome Article
- What is Rothmund-Thomson syndrome (RTS)?
- What are the signs and symptoms of Rothmund-Thomson syndrome?
- How common is Rothmund-Thomson syndrome?
- What genes are related to Rothmund-Thomson syndrome?
- How do people inherit Rothmund-Thomson syndrome?
- What other names do people use for Rothmund-Thomson syndrome?
- Where can I find information about treatment for Rothmund-Thomson syndrome?
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In This Article
Campomelic Dysplasia Article
- What is campomelic dysplasia?
- How common is campomelic dysplasia?
- What genes are related to campomelic dysplasia?
- How do people inherit campomelic dysplasia?
- What other names do people use for campomelic dysplasia?
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