In-depth

Ambiguous genitalia

Ambiguous genitalia is a condition in which a newborn's external genitals don't appear clearly male or female.

Angelman syndrome

A rare genetic disorder, Angelman syndrome causes a variety of problems, such as developmental delays, speech impairment, and difficulty with movement and balance.

Ataxia

Ataxia describes lack of muscle coordination while performing voluntary movements. A sign of an underlying condition, ataxia can affect any part of your body.

Cerebral palsy

Cerebral palsy — Comprehensive overview covers symptoms, causes and treatment of this movement disorder.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease includes a group of disorders that affect the peripheral nerves, causing muscle weakness and loss of muscle bulk. Treatment focuses on managing symptoms.

Childhood disintegrative disorder

Childhood disintegrative disorder is a developmental disorder characterized by normal development of at least two years, followed by loss of language, social and motor skills.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is a genetic condition affecting the adrenal glands and interfering with normal growth and development in boys and girls.

Craniosynostosis

Craniosynostosis is a birth defect in which one or more of the bony plates of a baby's skull fuse prematurely, misshaping the head.

Cystic fibrosis

Earlier detection and better treatments have improved the outlook for people with cystic fibrosis.

Diabetes insipidus

Diabetes insipidus is a rare condition characterized by intense thirst and the excretion of large amounts of urine.

DiGeorge syndrome

DiGeorge syndrome, a disorder due to "missing" genes, can result in numerous problems, including heart defects, low blood-calcium levels, delayed speech development and behavioral disorders.

Dilated cardiomyopathy

Dwarfism

Dwarfism — an adult height of 4 feet 10 inches (147 centimeters) or less — is caused by a medical or genetic condition.

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) includes a group of uncommon genetic disorders that mainly affect the joints, skin and walls of blood vessels.

Epidermolysis bullosa

Essential thrombocythemia

Essential thrombocythemia is an uncommon blood disorder in which your body makes too many platelets, which can cause abnormal blood clotting or bleeding.

Factor V Leiden

Factor V Leiden is an inherited disorder that results in an increased risk of blood clots. There's no cure, but blood-thinning medication can lower the risk of clotting.

Hemochromatosis

Hemochromatosis causes your body to store large amounts of iron, which can cause life-threatening complications. The simple treatment is to regularly remove blood.

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy is a genetic disorder in which heart muscle becomes abnormally thick. It's the most common cause of sudden cardiac death in young people.

Klinefelter syndrome

Klinefelter syndrome is a genetic disorder that affects hormone levels in males. Discover what causes it — and what treatments are available.

Krabbe disease

Krabbe disease is a rare, inherited disorder — most often affecting infants — that impairs functioning of the central nervous system and usually leads to early death.

Long QT syndrome

Long QT syndrome is an electrical disturbance that can cause sudden, rapid heart rates. It can be genetic or a side effect of medication.

Low sperm count

Low sperm count can cause male infertility. Find out what causes it and how it's treated.

Lynch syndrome

Lynch syndrome, an uncommon disorder caused by genetic defects, predisposes a person to develop colon cancer and other forms of cancer.

Male hypogonadism

Male infertility

You and your partner want a baby — but your sperm needs help getting the job done. Most couples can still make it happen with the right treatment.

Marfan syndrome

Marfan syndrome, a connective tissue disorder, can affect almost any part of your body, including your heart, eyes and ligaments.

Muscular dystrophy

Muscular dystrophy is an inherited disease resulting in progressive weakness of the body's muscles. Some forms are milder; others, more severe.

Myelofibrosis

In myelofibrosis, healthy bone marrow is replaced with scar tissue, leading to severe anemia and fatigue.

Neurofibromatosis

Neurofibromatosis — Comprehensive overview covers symptoms, diagnosis and treatment of this genetic disorder.

Noonan syndrome

Noonan syndrome is caused by a mutation in one of the genes responsible for normal development in many parts of the body, including the heart.

Phenylketonuria

Phenylketonuria is a rare birth defect for which newborns are routinely screened. This rare birth defect requires a special diet to prevent mental retardation.

Polycythemia vera

Polycythemia vera is a rare blood disorder in which a person's bone marrow makes too many blood cells.

Prader-Willi syndrome

Prader-Willi syndrome, a genetic disorder characterized by decreased muscle tone and a constant desire to eat, often leads to morbid obesity.

Pregnancy after miscarriage

If you've had a miscarriage and want to get pregnant again, you might have questions. Find out more about pregnancy after miscarriage.

Primary progressive aphasia

Primary progressive aphasia is a rare neurological syndrome that slowly and progressively impairs language capabilities.

Pulmonary hypertension

High blood pressure affecting only the arteries in your lungs is known as pulmonary hypertension. Discover the symptoms, risk factors and treatment for this condition.

Rett syndrome

Parenting a child with Rett syndrome can be challenging. Here's what to expect and steps you can take to help your child.

Stickler syndrome

Stickler syndrome can affect multiple parts of your body, including your eyes, face, ears, bones and joints.

Thalassemia

Thalassemia is an inherited blood disorder, characterized by less hemoglobin and fewer red blood cells than normal. When necessary, treatment includes blood transfusions.

Thoracic aortic aneurysm

Triple X syndrome

How to identify and treat triple X syndrome.

Wilson's disease

In Wilson's disease, the body doesn't metabolize copper properly, causing excess amounts to accumulate in the liver and other organs.

Jul. 19, 2013