Medical Genetics

The field of medical genetics focuses on how genes and heredity affect our health. This area encompasses birth defects, prenatal diagnoses, and a host of genetic diseases such as certain types of cancer, dermatologic conditions, and autism. Medical geneticists work with people of all ages.

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A

Diseases & Conditions
Aarskog syndrome
Aarskog syndrome is a disease that affects a person's height, muscles, skeleton, genitals, and appearance. It is passed down through families (inherited).

Diseases & Conditions
Aase syndrome
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities. anemia

Diseases & Conditions
Acrodysostosis
Acrodysostosis is an extremely rare disorder that is present at birth (congenital). It leads to problems with the bones of the hands, feet, and nose, and intellectual disability.

Diseases & Conditions
Albinism
Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and iris of the eye.

Diseases & Conditions
Alkaptonuria
Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. Alkaptonuria is part of a group of conditions known as an inborn error of metabolism. inborn...

Diseases & Conditions
Angelman syndrome
Angelman syndrome (AS) is a genetic condition that causes problems with the way a child's body and brain develop. The syndrome is present from birth (congenital). However, it often isn't diagnosed until...

Diseases & Conditions
Apert syndrome
Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.

Diseases & Conditions
Ataxia - telangiectasia
Ataxia-telangiectasia is a rare childhood disease. It affects the brain and other parts of the body. Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels...

Special Topics
Autosomal dominant
Autosomal dominant is one of several ways that a trait or disorder can be passed down (inherited) through families. In an autosomal dominant disease, if you inherit the abnormal gene from only one parent...

Special Topics
Autosomal recessive
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in...

B

Diseases & Conditions
Bassen-Kornzweig syndrome
Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines.

C

Diseases & Conditions
Canavan disease
Canavan disease is a condition that affects how the body breaks down and uses aspartic acid. aspartic acid

Diseases & Conditions
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and spine. These are called the peripheral nerves.

Diseases & Conditions
Chediak-Higashi syndrome
Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin.

Special Topics
Chromosome
Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the building block of the human body. genes Chromosomes also...

Diseases & Conditions
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. adrenal gland

Diseases & Conditions
Cri du chat syndrome
Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome's name is based on the infant's cry, which is high-pitched and sounds like a cat. chromosome

Diseases & Conditions
Crigler-Najjar syndrome
Crigler-Najjar syndrome is a very rare inherited disorder in which bilirubin (a substance made by the liver) cannot be broken down.

D

Diseases & Conditions
Duchenne muscular dystrophy
Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness, which quickly gets worse. muscle weakness

E

Diseases & Conditions
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, hyperelastic (very stretchy) skin that bruises easily, and easily damaged blood vessels. hyperelastic

Diseases & Conditions
Ellis-van Creveld syndrome
Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.

F

Diseases & Conditions
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy is muscle weakness and loss of muscle tissue that gets worse over time. muscle weakness

Diseases & Conditions
Familial combined hyperlipidemia
Familial combined hyperlipidemia is a disorder that is passed down through families. It causes high cholesterol and high blood triglycerides. high blood triglycerides

Diseases & Conditions
Familial dysbetalipoproteinemia
Familial dysbetalipoproteinemia is a disorder passed down through families. It causes high amounts of cholesterol and triglycerides in the blood.

Diseases & Conditions
Familial hypercholesterolemia
Familial hypercholesterolemia is a disorder that is passed down through families. It causes LDL (bad) cholesterol level to be very high. The condition begins at birth and can cause heart attacks at an early...

Diseases & Conditions
Familial hypertriglyceridemia
Familial hypertriglyceridemia is a common disorder passed down through families. It causes a higher-than-normal level of triglycerides (a type of fat) in a person's blood. The condition is not linked to...

Diseases & Conditions
Fibrous dysplasia
Fibrous dysplasia is a bone disease that destroys and replaces normal bone with fibrous bone tissue. One or more bones can be affected.

Diseases & Conditions
Fragile X syndrome
Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited intellectual disability in boys. intellectual disability

Diseases & Conditions
Friedreich ataxia
Friedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart.

G

Tests
Galactose-1-phosphate uridyltransferase blood test
Galactose-1-phosphate uridyltransferase is a blood test that measures the level of a substance called GALT, which helps break down milk sugars in your body. A low level of this substance causes a condition...

Diseases & Conditions
Galactosemia
Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose. metabolize

Diseases & Conditions
Gaucher disease
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

Special Topics
Genes
A gene is a short piece of DNA. Genes tell the body how to build specific proteins. There are about 20,000 genes in each cell of the human body. Together, they make up the blueprint for the human body and...

Special Topics
Genetic counseling
Genetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair color, skin color, and eye color, are determined by genes...

Special Topics
Genetics
Genetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, skin color, and eye color -- is determined by genes. Other...

H

Diseases & Conditions
Hartnup disorder
Hartnup disorder is an inherited metabolic condition that involves the transport of certain amino acids (for example, tryptophan and histidine) in the small intestine and kidneys. metabolic amino acids...

Diseases & Conditions
Hereditary amyloidosis
Hereditary amyloidosis is a condition in which abnormal protein deposits (called amyloid) form in almost every tissue in the body. Deposits most often form in the heart, kidneys, and nervous system. These...

Diseases & Conditions
Hereditary fructose intolerance
Hereditary fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that naturally occurs in the body. Man-made fructose is used as...

Diseases & Conditions
Hereditary urea cycle abnormality
Hereditary urea cycle abnormality is an inherited condition. It can cause problems with the removal of waste from the body in the urine.

Diseases & Conditions
Homocystinuria
Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life. metabolism amino acid

Diseases & Conditions
Hunter syndrome
Hunter syndrome is a disease in which long chains of sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides) are not broken down correctly and build up in the body. mucopolysaccharides...

Diseases & Conditions
Hurler syndrome
Hurler syndrome is a rare disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). metabolism Hurler syndrome...

K

Tests
Karyotyping
Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or disease.

Diseases & Conditions
Klinefelter syndrome
Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome.

Diseases & Conditions
Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome is a rare condition that is typically present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, and varicose veins.

Diseases & Conditions
Krabbe disease
Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.

L

Diseases & Conditions
Limb-girdle muscular dystrophies
Limb-girdle muscular dystrophies include at least 18 different inherited disorders. (There are 16 known genetic forms. ) These disorders first affect the muscles around the shoulder girdle and hips. These...

M

Diseases & Conditions
Malignant hyperthermia
Malignant hyperthermia is a disease that causes a fast rise in body temperature and severe muscle contractions when someone with the disease gets general anesthesia. It is passed down through families....

Diseases & Conditions
Maple syrup urine disease
Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.

Diseases & Conditions
Marfan syndrome
Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and...

Diseases & Conditions
McArdle disease
McArdle disease is a rare inherited condition in which the body is not able to break down glycogen. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and...

Diseases & Conditions
McCune-Albright syndrome
McCune-Albright syndrome is a genetic disease that affects the bones and color (pigmentation) of the skin.

Diseases & Conditions
Menkes syndrome
In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism." inborn error of metabolism

Diseases & Conditions
Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time.

Tests
Methylene blue test
The methylene blue test is a test to determine the type of methemoglobinemia, a blood disorder. methemoglobinemia

Diseases & Conditions
Morquio syndrome
Morquio syndrome is a disease of metabolism in which the body is missing or does not have enough of a substance needed to break down long chains of sugar molecules. These chains of molecules are called...

Diseases & Conditions
Mosaicism
Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including: Blood cellsEgg and sperm cells Skin cells Blood cells...

Special Topics
Mucopolysaccharides
Mucopolysaccharides are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints. They are more commonly called glycosaminoglycans.

N

Diseases & Conditions
Neurofibromatosis 2
Neurofibromatosis 2 (NF2) is a disorder in which tumors form on the nerves of the brain and spine (the central nervous system). It is passed down (inherited) in families. Although it has a similar name...

Diseases & Conditions
Neurofibromatosis-1
Neurofibromatosis-1 is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the: tumors Bottom layer of skin (subcutaneous tissue)Nerves from the brain (cranial nerves) and spinal...

Diseases & Conditions
Neuronal ceroid lipofuscinoses (NCL)
Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited). These are the 3 main types of NCL: Adult (Kufs or Parry disease...

Diseases & Conditions
Niemann-Pick disease
Niemann-Pick disease is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. There are 4 most commonly...

Diseases & Conditions
Noonan syndrome
Noonan syndrome is a disease that can be passed down through families (inherited). It causes many parts of the body to develop abnormally.

O

Diseases & Conditions
Osler-Weber-Rendu syndrome
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding.

P

Diseases & Conditions
Pierre Robin sequence
Pierre Robin sequence (or syndrome) is a condition in which an infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. It is present at birth.

Symptoms
Polydactyly
Polydactyly is a condition in which a person has more than 5 fingers per hand or 5 toes per foot.

Diseases & Conditions
Progeria
Progeria is a rare genetic condition that produces rapid aging in children.

Diseases & Conditions
Prune belly syndrome
Prune belly syndrome is a group of birth defects that involves these 3 main problems: Poor development of the abdominal muscles, causing the skin of the belly area to wrinkle like a pruneUndescended testiclesUrinary...

Diseases & Conditions
Pyruvate kinase deficiency
Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in a low level of these...

R

Diseases & Conditions
Reifenstein syndrome
Reifenstein syndrome is a disease that occurs in boys when their body cannot respond the right way to the male sex hormones (androgens). Testosterone is a male sex hormone. This disorder is a type of androgen...

Diseases & Conditions
Riley-Day syndrome
Riley-Day syndrome is an inherited disorder that affects nerves throughout the body.

Diseases & Conditions
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.

Diseases & Conditions
Russell-Silver syndrome
Russell-Silver syndrome is a disorder present at birth involving poor growth. One side of the body also will appear to be larger than the other.

S

Diseases & Conditions
Sanfilippo syndrome
Sanfilippo syndrome is metabolism disorder in which the body cannot properly break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides...

Diseases & Conditions
Scheie syndrome
Scheie syndrome is metabolism disease in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). The syndrome belongs to...

Special Topics
Sex-linked dominant
Sex-linked dominant is a rare way that a trait or disorder can be passed down through families. One abnormal gene on the X chromosome can cause a sex-linked dominant disease. Related terms and topics include...

Special Topics
Sex-linked recessive
Sex-linked diseases are passed down through families through one of the X or Y chromosomes. X and Y are sex chromosomes. Dominant inheritance occurs when an abnormal gene from one parent causes disease...

Symptoms
Short philtrum
A short philtrum is a shorter than normal distance between the upper lip and the nose.

Special Topics
Stem cell research
A stem cell is a generic cell that can make exact copies of itself indefinitely. A stem cell has the ability to make specialized cells for various tissues in the body, such as heart muscle, brain tissue...

Diseases & Conditions
Sturge-Weber syndrome
Sturge-Weber syndrome is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.

T

Diseases & Conditions
Transient familial hyperbilirubinemia
Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with this disorder are born with severe jaundice. jaundice

Special Topics
Translocation
Translocation means a change in location. It usually refers to genetics, when part of a chromosome is transferred to another chromosome. Chromosomes are structures that carry genes, our units of heredity...

Diseases & Conditions
Treacher Collins syndrome
Treacher Collins syndrome is a condition that is passed down through families (hereditary). It leads to problems with the structure of the face.

Diseases & Conditions
Trisomy 13
Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached...

Diseases & Conditions
Trisomy 18
Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual 2 copies. chromosome

Diseases & Conditions
Tuberous sclerosis
Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, and heart. The condition can also cause tumors to grow in the brain. These tumors have a tuber- or root-shaped...

Diseases & Conditions
Turner syndrome
Turner syndrome is a rare genetic condition in which a female does not have the usual pair of 2 X chromosomes.

V

Diseases & Conditions
Von Gierke disease
Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to...

W

Diseases & Conditions
Waardenburg syndrome
Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. deafness

Diseases & Conditions
Williams syndrome
Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in families (inherited).

Diseases & Conditions
Wilson disease
Wilson disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous system.