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.

  • 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?
  • Ehlers-Danlos Syndrome Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and...learn more »
    In This Article
    Ehlers-Danlos Syndrome Article
    • Ehlers-Danlos syndrome facts
    • What is Ehlers-Danlos syndrome?
    • What are the types of Ehlers-Danlos syndromes?
    • How is Ehlers-Danlos diagnosed?
    • How are Ehlers-Danlos syndromes treated?
  • Huntington's Disease Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited...learn more »
    In This Article
    Huntington's Disease Article
    • Huntington's disease facts*
    • 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?
  • 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?
  • 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
    • Pheochromocytoma facts
    • 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?
  • 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?
  • Sickle Cell Disease (Sickle Cell Anemia) Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal...learn more »
    In This Article
    Sickle Cell Disease (Sickle Cell Anemia) Article
    • Sickle cell anemia facts
    • 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?
  • 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
    • Thalassemia facts
    • 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
  • Amyotrophic Lateral Sclerosis (ALS) Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks...learn more »
    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?
  • 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?
  • Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of...learn more »
    In This Article
    Wolff-Parkinson-White Syndrome Article
    • What is Wolff-Parkinson-White syndrome?
    • Who gets Wolff-Parkinson-White syndrome?
    • What causes Wolff-Parkinson-White syndrome?
    • What are the signs and symptoms of Wolff-Parkinson-White syndrome?
    • What are the potential complications of Wolff-Parkinson-White syndrome?
    • How is Wolff-Parkinson-White syndrome diagnosed?
    • What is the treatment for Wolff-Parkinson-White syndrome?
    • What is the prognosis for Wolff-Parkinson-White syndrome?
    • Can Wolff-Parkinson-White syndrome be prevented?
  • 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?
  • Breast Cancer Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast...learn more »
    In This Article
    Breast Cancer Article
    • Breast cancer facts
    • What is breast cancer?
    • What are the risk factors for breast cancer?
    • What causes breast cancer?
    • What are the different types of breast cancer?
    • What are the signs and symptoms of breast cancer?
    • How is breast cancer diagnosed?
    • Screening
    • Definitive diagnosis
    • Specialized testing
    • What are the stages of breast cancer?
    • What is the treatment for breast cancer?
    • Surgery
    • Radiation
    • Hormone therapy
    • Chemotherapy
    • Targeted therapy
    • Breast cancer treatment by stage
    • What are the survival rates and prognosis for breast cancer?
    • What research is being performed on breast cancer?
    • Can breast cancer be prevented?
  • 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 Ramsay 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?
  • 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?
  • 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
  • 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
    • Birth defects facts*
    • What are birth defects?
    • What causes birth defects?
    • What are the different types of birth defects?
    • What are the treatments for birth defects?
  • 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?
  • Charcot-Marie-Tooth-Disease Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the...learn more »
    In This Article
    Charcot-Marie-Tooth-Disease Article
    • What is Charcot-Marie-Tooth disease?
    • What are the symptoms of Charcot-Marie-Tooth disease?
    • What causes Charcot-Marie-Tooth disease?
    • What are the types of 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?
  • 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?
  • 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
    • Miscarriage facts
    • 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 suspectedmiscarriage?
    • 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?
  • Prader-Willi Syndrome Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor...learn more »
    In This Article
    Prader-Willi Syndrome Article
    • Prader-Willi syndrome facts*
    • 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?
  • 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?
  • 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?
  • 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?
  • 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
  • Alpha-1 Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is an inherited disorder that may cause liver and lung disease in adults. Signs and symptoms...learn more »
    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?
  • Down Syndrome Down syndrome is a genetic disorder that is caused by an additional set of chromosomes in a developing fetus. Distinctive facial...learn more »
    In This Article
    Down Syndrome Article
    • What is Down syndrome?
    • What causes Down syndrome?
    • What are the signs and symptoms of Down syndrome?
    • How is Down syndrome diagnosed?
    • What is the treatment for Down syndrome?
    • What are the potential complications of Down syndrome?
    • What is the prognosis for someone with Down syndrome?
    • What is the life expectancy for someone with Down syndrome?
    • Can Down syndrome be prevented?
  • 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?
  • Malignant Hyperthermia Malignant hyperthermia is a severe reaction to certain drugs that are often used during invasive procedures or surgery. Certain...learn more »
    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?
  • Face Blindness (Prosopagnosia) Face blindness (prosopagnosia) is a condition that causes the inability to recognize faces. Face blindness may be caused by...learn more »
    In This Article
    Face Blindness (Prosopagnosia) Article
    • Prosopagnosia facts*
    • What is prosopagnosia?
    • Is there any treatment?
    • What is the prognosis?
    • What research is being done?
  • 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?
  • 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
    • Loeys-Dietz syndrome facts
    • 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?
  • 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
    • Canavan disease facts*
    • 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?
  • 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
    • Noonan syndrome facts*
    • What is Noonan syndrome?
    • What are the signs and symptoms of Noonan syndrome?
    • How common is Noonan syndrome?
    • What genes are related to Noonan syndrome?
    • How do people inherit Noonan syndrome?
    • What other names do people use for Noonan syndrome?
  • 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?
  • Gardner's Syndrome (Familial Adenomatous Polyposis) Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum...learn more »
    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?
  • 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
  • Treacher Collins Syndrome Treacher Collins syndrome is a rare genetic condition that affects the development of the bones and tissues of the face. Symptoms...learn more »
    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?
  • Hutchinson-Gilford Progeria Syndrome Hutchinson-Gilford progeria syndrome is an inherited genetic condition. This syndrome is characterized by a dramatic, rapid...learn more »
    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?
  • 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?
  • 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?
  • Pycnodysostosis Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are...learn more »
    In This Article
    Pycnodysostosis Article
    • Pycnodysostosis facts
    • 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?
  • Rothmund-Thomson Syndrome Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks...learn more »
    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?
  • Campomelic Dysplasia Campomelic dysplasia is a rare inherited condition that may be life threatening. The condition affects the skeleton and...learn more »
    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?

STAY INFORMED

Get the Latest health and medical information delivered direct to your inbox!