Health Library

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• XYY Syndrome

  XYY syndrome is a rare genetic condition that affects only males. Boys who have it may be taller than average, but the symptoms can vary greatly.

• Pyruvate Kinase Deficiency

  Pyruvate kinase deficiency is a condition that can lead to anemia. Most people with the condition lead a healthy life.

• RASopathies

  RASopathies are a group of genetic conditions caused by problems in the RAS pathway, which is one way cells in the body communicate.

• Sanfilippo Syndrome

  Sanfilippo syndrome is a rare condition in which the body can't break down certain carbohydrates (sugars) in the blood, leading to serious problems in the brain and nervous system.

• Sickle Cell Trait

  Children who inherit one sickle cell gene have sickle cell trait. They usually don't get symptoms of sickle cell disease.

• Spondyloepiphyseal Dysplasia Congenita (SEDc)

  Spondyloepiphyseal dysplasia congenita is a type of skeletal dysplasia, causing short stature (dwarfism) and other bone problems, along with vision and hearing problems.

• Tay-Sachs Disease

  A baby with Tay-Sachs disease is born without an important enzyme, so fatty proteins build up in the brain, hurting the baby's sight, hearing, movement, and mental development.

• Thyroid Disease

  The thyroid gland makes the hormones that help control metabolism and growth. A thyroid that isn't working properly can cause thyroid disease.

• Thyroid Tests

  Thyroid blood tests check thyroid function and can help doctors diagnose thyroid disorders such as hypothyroidism and hyperthyroidism.

• Treacher Collins Syndrome

  Treacher Collins syndrome (TCS) refers to a group of facial features that some babies are born with. TCS causes distinctive abnormalities of the head and face, but doesn't affect intelligence or lifespan.

• Triple X Syndrome

  Triple X syndrome (also known as XXX syndrome, 47,XXX, and trisomy X) is a genetic condition found in girls only. Girls who have it may be taller than average, but the symptoms can vary greatly.

• Tuberous Sclerosis Complex

  Tuberous sclerosis complex is a genetic condition that causes the growth of benign tumors. Symptoms can range from mild to severe.

• Turner Syndrome

  Girls with Turner syndrome, a genetic condition, usually are shorter than average and infertile due to early loss of ovarian function. Early diagnosis and treatments can help most of them.

• Noonan Syndrome

  Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, and usually includes heart problems.

• Hypothyroidism and Hashimoto’s Thyroiditis

  An underactive thyroid makes too little thyroid hormone, causing hypothyroidism. Hashimoto's thyroiditis, which causes most cases of hypothyroidism in kids and teens, is a condition in which the immune system attacks the thyroid.

• If Your Baby Has a Birth Defect

  If your child has a birth defect, you don't have to go it alone - many people and resources are available to help you.

• Klinefelter Syndrome

  Boys with this condition have an extra "X" chromosome that prevents them from developing normally during puberty. But hormone treatments, counseling, and other therapies can help.

• Kniest Dysplasia

  Kniest dysplasia is a type of skeletal dysplasia, causing short stature (dwarfism) and other bone problems, along with vision and hearing problems.

• Legius Syndrome

  Legius syndrome is a rare genetic condition. Kids who have it have multiple café-au-lait spots on their skin and might be slower to walk, talk, and reach other milestones than most kids.

• Maple Syrup Urine Disease

  Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with.

• Marfan Syndrome

  Marfan syndrome affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Even though the disease has no cure, doctors can successfully treat just about all of its symptoms.

• Morquio A Syndrome

  Morquio A syndrome causes growth problems and also can affect the heart and cause hearing and vision problems. Medical care and treatments can help with these problems.

• Multiple Epiphyseal Dysplasia

  Multiple epiphyseal dysplasia is a type of skeletal dysplasia. It affects the ends of the long bones, leading to short stature, joint pain and stiffness, and other bone problems.

• Muscular Dystrophy

  Muscular dystrophy is a disorder that weakens a person's muscles over time. People who have the disease can gradually lose the ability to do everyday tasks.

• Neurocutaneous Syndromes

  Neurocutaneous syndromes are genetic disorders that lead to tumor growth in various parts of the body. Learn how to maximize the quality of life for children with these diseases.

• Neurofibromatosis Type 1

  Neurofibromatosis type 1 (NF1) is a genetic condition that causes benign tumors in and under the skin, often with bone, hormone, and other problems. Learn more about how it's diagnosed and treated.

• Newborn Screening Tests

  Newborn screening tests look for health conditions that aren't apparent at birth. Find out which tests are done.

• Phenylketonuria (PKU)

  Phenylketonuria (PKU) is a metabolic disorder caused by a defect in the enzyme that breaks down an amino acid. PKU is treatable when it is found early.

• Primordial Dwarfism

  People with primordial dwarfism have slowed growth that begins before birth and continues throughout life. Sometimes they have other health problems too.

• Pseudoachondroplasia

  Pseudoachondroplasia is a skeletal dysplasia that causes dwarfism and arms and legs that are short compared with the body. Children who have it can live long and productive lives.

• Hereditary Hemochromatosis

  This genetic disease causes the body to store too much iron. Learn more about hemochromatosis.

• Hypochondroplasia

  Hypochondroplasia is a condition that affects the growth of bone and cartilage. Kids who have it are shorter than other kids of the same age).

• Hyperthyroidism and Graves’ Disease

  Hyperthyroidism happens when the thyroid gland sends too much thyroid hormone into the blood. The most common cause of hyperthyroidism is Graves' disease.

• Hydroxyurea for People With Sickle Cell Disease

  Hydroxyurea is a medicine that can help kids and teens who have sickle cell disease. Find out how it works.

• Hemophilia: Handling Bleeds

  Kids with hemophilia can bleed easily or longer than normal. So it's important for parents to know how to handle bleeding when it happens.

• Diastrophic Dysplasia

  Diastrophic dysplasia is a skeletal dysplasia. People who have it are generally shorter than average in height.

• Down Syndrome

  In Down syndrome, an extra chromosome causes delays in the way a child develops, mentally and physically. But many resources are available to help kids who have it and their families.

• Duchenne Muscular Dystrophy

  Duchenne muscular dystrophy is the most common form of muscular dystrophy. It gradually makes the body's muscles weaker.

• Dwarfism

  Dwarfism is a condition that is characterized by short stature. Many of the possible complications of dwarfism are treatable, and people of short stature lead healthy, active lives.

• Ellis-Van Creveld Dysplasia

  Ellis-van Creveld dysplasia is a type of skeletal dysplasia, causing very short stature (dwarfism), short arms and legs, and a narrow chest. Regular care from medical specialists can help with problems it can cause.

• Epigenetics

  Epigenetics - the idea that environmental factors can change the health not only of the people who are exposed to them, but also the health of their descendants - is something we'll be hearing more about.

• Familial Hypercholesterolemia

  Familial hypercholesterolemia is a genetic condition that causes very high levels of LDL ("bad" cholesterol).

• Fanconi Anemia

  Fanconi anemia is an inherited condition in which the bone marrow doesn’t work normally. A child with the condition needs lifelong medical care.

• Galactosemia

  Some babies are born with the metabolic disorder glactosemia. They must drink soy-based formula instead of breast milk or a cow's milk-based formula.

• Gene Changes (Mutations)

  A gene mutation is a change in one or more genes. Some mutations can lead to genetic disorders or illnesses.

• Genetic Counseling

  Genetic counseling is a way for people to understand how genetic illnesses can affect them and their family.

• Genetic Testing

  Advances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.

• Genetics

  Genetics is the study of genes, which carry information that gets passed from one generation to the next.

• Goiters and Thyroid Nodules

  An enlarged thyroid gland is a lump that can be felt under the skin at the front of the neck. When it's big enough to see easily, it's called a goiter. A thyroid nodule is a lump or enlarged area in the thyroid gland.

• Hemophilia

  Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. With modern treatment, most kids who have it can lead full, healthy lives.

• G6PD Deficiency

  G6PD deficiency an inherited condition in which someone doesn't have enough of the enzyme G6PD, which protects red blood cells.

• Achondroplasia

  Achondroplasia is a condition that causes short stature (an adult height less than 4 feet, 10 inches). Treatment can help with related problems, and new research offers hope for even better treatments.

• Albinism

  Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.

• Alpha Thalassemia

  Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

• Ataxia-Telangiectasia

  Ataxia telangiectasia is a rare genetic condition. Children with the condition have uncoordinated movements that get worse over time.

• Beta Thalassemia

  Beta thalassemia is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

• Birth Defects

  Some birth defects are minor and cause no problems. Others can be serious and require lifelong treatment.

• CLOVES Syndrome

  CLOVES syndrome is a very rare genetic disorder that causes vascular, skin, spinal, and bone or joint abnormalities.

• Campomelic Dysplasia

  People with campomelic dysplasia usually have bent long bones and can have severe breathing problems. A team of specialists will care for a child when medical problems come up.

• Cardiofaciocutaneous (CFC) Syndrome

  Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition. It affects the heart, facial features, and skin.

• Cartilage Hair Hypoplasia

  Kids with cartilage hair hypoplasia have differences with the growth of their bones. With regular medical care, most kids can live a full, healthy life.

• Charcot-Marie-Tooth Disease (CMT)

  Charcot-Marie-Tooth disease (CMT) is a neurological disorder. It causes muscle weakness and numbness, most commonly in the arms and legs.

• Congenital Adrenal Hyperplasia

  Congenital adrenal hyperplasia (CAH) affects the adrenal glands, which make important hormones. Symptoms depend on a child's age, sex, and which hormones the adrenal glands make too little or too much of.

• Congenital Hypothyroidism

  Some babies are born with a thyroid gland that didn't develop correctly or doesn't work as it should. This is called congenital hypothyroidism.

• Costello Syndrome

  Costello syndrome is a very rare disorder that affects multiple organ systems. It causes causes problems that affect a child's heart, muscles, bones, skin, brain, and spinal cord.

• Diamond-Blackfan Anemia

  Diamond-Blackfan anemia happens when bone marrow doesn’t make enough red blood cells. It also can cause physical changes in their heart, head, and upper body.

• 22q11.2 Deletion Syndrome (DiGeorge Syndrome)

  22q11.2 deletion syndrome (also called DiGeorge Syndrome) is a genetic condition that can cause a variety of physical and behavioral problems.