Genetic Disorders

What are the chances that you'll inherit health issues from your parents? Learn the role genetics plays in certain medical conditions and how researchers are using this information.

Chromosome, genes, and alleles

Allele: Function, How It Works, Significance

By Cristina Mutchler

Three DNA double helixes are shown in bright colors.

Genetic Predisposition: What It Is and How It Works

By Adrienne Dellwo

Genetic Disorder

Pompe Disease: Overview and More

Familial Cold Autoinflammatory Syndrome: Overview and More

Autoinflammatory Diseases: Overview and More

Baby having temperature taken may have a periodic fever syndrome

Periodic Fever Syndromes: Overview and More

By Rachael Zimlich, BSN, RN

imperforate anus

Imperforate Anus: Overview and More

Medically reviewed by Lyndsey Garbi, MD

Turner Syndrome: Overview and More

Medically reviewed by Rochelle Collins, DO

Saethre Chotzen Syndrome: Overview and More

Medically reviewed by Lyndsey Garbi, MD

Family At Home Encouraging Baby Daughter To Take First Steps

X-linked Hypophosphatemia: Overview and More

Medically reviewed by Chris Vincent, MD

duodenal atresia

Duodenal Atresia: Symptoms, Causes, Diagnosis, and Treatment

By Sherry Christiansen

Mother with newborn baby

Goldenhar Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Keri Peterson, MD

Little girl at the dentist

Amelogenesis Imperfecta: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

Ehlers-Danlos Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Kashif J. Piracha, MD

Teacher helping elementary school student in class

Fragile X Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Inheritance

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

brother and sister - stock photo

Kabuki Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Chris Vincent, MD

Baby with finger in her mouth

Lesch-Nyhan Syndrome: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

Phelan-McDermid Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Sarah Rahal, MD

Smiling mother taking selfie with autistic son while sitting on sofa at home - stock photo

Morquio Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Lindsey Waldman, MD, RD

NICU Baby with downsyndrome - stock photo

Thanatophoric Dysplasia: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Lyndsey Garbi, MD

Smith Lemli Opitz Syndrome: Symptoms, Causes, and Diagnosis

Medically reviewed by Lyndsey Garbi, MD

Portrait of happy disabled businessman with laptop at desk in office - stock photo

Cleidocranial Dysplasia: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Lyndsey Garbi, MD

Caucasian mother hugging son with Down Syndrome - stock photo

Coffin-Lowry Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Claudia Chaves, MD

Father swinging disabled son at playground - stock photo

Coffin-Siris Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Lyndsey Garbi, MD

Boy in a wheelchair with his mom

Spinal Muscular Atrophy (SMA): Causes and Risk Factors

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

Crouzon syndrome

Crouzon Syndrome: Symptoms, Causes, Diagnosis, & Treatment

Medically reviewed by Brian Levine, MD

Nigerian woman with features of albinism

Hermansky-Pudlak Syndrome: Symptoms, Causes, Treatment

Medically reviewed by Jason DelCollo, DO

Gene mutation or chromosomal deletion leads to Rubenstein-Taybi syndrome

Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

Medically reviewed by Brian Levine, MD

Myotonic Muscular Dystrophy: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

MBD5 Genetic Disorders: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Brian Levine, MD

African American nurse examining baby in hospital incubator

Methylmalonic Acidemia: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Rony Kampalath, MD

Mother tending to her son's wounded arm

Epidermolysis Bullosa: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Jason DelCollo, DO

MMA-HCU-newborn-screening

Methylmalonic Acidemia With Homocystinuria: Symptoms, Causes, and Treatment

Medically reviewed by Cristian Zanartu, MD

Mother and daughter laughing

MCAD: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Chris Vincent, MD

A blood sample being held with a row of human samples for analytical testing including blood, urine, chemistry, proteins, anticoagulants and HIV in lab

HLA Typing: Purpose, Procedure, Interpretation

Medically reviewed by Keri Peterson, MD

Familial Adenomatous Polyposis Overview

Medically reviewed by Rony Kampalath, MD

Massachussetts To Enact Mandatory Health Insurance Law

Benefits and Risks of Gene Therapy for Sickle Cell

Medically reviewed by Caitilin Kelly, MD

DiGeorge Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Isaac O. Opole, MD, PhD

X-ray of a child examining Klippel-Feil syndrome

Klippel-Feil Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Cristian Zanartu, MD

Oculocutaneous Albinism: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Casey Gallagher, MD

Young girl who is sick

Hyperekplexia: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Rony Kampalath, MD

Female doctor and patient talking in exam room

Chediak-Higashi Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Lauren Schlanger, MD

Newborn Baby Sleeping In Hospital Bassinet

Apert Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Kashif J. Piracha, MD

Understanding Whole Exome Sequencing Genetic Tests

Medically reviewed by Richard N. Fogoros, MD

Close-up of a cardiac monitor

Hypoplasia Surgery: Preparation, Recovery, Long-Term Care

Medically reviewed by Brian Levine, MD

Doctor checking a child's blood pressure

Familial Dysautonomia: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Diana Apetauerova, MD

Genetic mutation

Muscular Dystrophy: Causes and Risk Factors

Medically reviewed by Claudia Chaves, MD

Caring for A Child With Muscular Dystrophy

How Muscular Dystrophy Is Treated

Medically reviewed by Claudia Chaves, MD

alternative medicine for muscular dystrophy

Muscular Dystrophy: Signs, Symptoms, and Complications

Medically reviewed by Claudia Chaves, MD

A doctor examining his patient's mans knee in an examination room

What You Need to Know About Gaucher Disease

Medically reviewed by Keri Peterson, MD

Couple sitting in consulting room at the doctor s

Tay-Sachs Disease: Causes, Diagnosis, and Prevention

Medically reviewed by Keri Peterson, MD

Female doctor crouches down to check on a senior woman in a wheelchair.

How Muscular Dystrophy Is Diagnosed

Medically reviewed by Claudia Chaves, MD

Female Ophthalmologist Checking Patient Eyes Through Equipment At Clinic

Wolfram Syndrome: Causes, Symptoms, Diagnosis, and Treatment

Medically reviewed by Keri Peterson, MD

Man with Duchenne muscular dystrophy controlling a motorized wheelchair with degenerated hands

Muscular Dystrophy (MD): Overview and More

Medically reviewed by Claudia Chaves, MD

Light Micrograph of a Set of Normal Male Chromosomes

Heterozygous vs. Homozygous Differences

Medically reviewed by Chris Vincent, MD

Angelman syndrome in a young man

Symptoms, Causes, and Treatments of Angelman Syndrome

Medically reviewed by Keri Peterson, MD

African American female nurse examining premature baby

Understanding Urea Cycle Disorders

Medically reviewed by Jason DelCollo, DO

Pediatrician checking height of girl in examination room

Williams Syndrome: Symptoms, Causes, Diagnosis, and Coping

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

Ambulatory chemotherapy

Overview of Gaucher Disease

Medically reviewed by Keri Peterson, MD

An Overview of Erythropoietic Protoporphyria

Erythropoietic Protoporphyria: Symptoms, Causes, Diagnosis

Medically reviewed by Keri Peterson, MD

Nurse helping newborn baby in hospital nursery

An Overview of Inborn Errors of Metabolism

Medically reviewed by Chris Vincent, MD

Newborn with Mom in NICU

Nonketotic Hyperglycinemia: Symptoms, Causes, Treatment

Medically reviewed by Nicholas R. Metrus, MD

Doctor assisting patient with severe abdominal pain

Familial Mediterranean Fever: Causes, Diagnosis, and Treatment

Medically reviewed by Caitilin Kelly, MD

Blood vessel with blood cells, illustration

Hereditary Hemorrhagic Telangiectasia Overview

Medically reviewed by Rochelle Collins, DO

Eye Exam looking for Wilson's Disease

Wilson's Diseases Symptoms and Treatment

Medically reviewed by Rochelle Collins, DO

DNA sample being pipetted into petri dish with DNA gel in background

Genetic Testing: Uses, Side Effects, Procedure, Results

Medically reviewed by Jason DelCollo, DO

DNA Research, DNA test results on a computer screen in the laboratory with a tray of samples in the foreground

Fabry Disease: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Caitilin Kelly, MD

Businessman with Duchenne muscular dystrophy and a man with Friedreich's Ataxia working at a cafe

Caregiving for Someone With Muscular Dystrophy

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

Child getting exam for Perthes disease

Perthes Disease: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Jason DelCollo, DO

An illustration of chromosomes.

Klinefelter Syndrome: Symptoms, Genetics, and Treatment

Medically reviewed by Caitilin Kelly, MD

child with CHARGE syndrome

CHARGE Syndrome: Symptoms, Diagnosis, and Treatment

Medically reviewed by Sarah Rahal, MD

Mitochondrion, TEM

Mitochondrial Disease Symptoms and Treatment

Medically reviewed by Brian Levine, MD

Noonan syndrome

Noonan Syndrome: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Lyndsey Garbi, MD

Chromosomes and genes

What Genomic Testing Can Tell You About Health Risks

Medically reviewed by Rochelle Collins, DO

An older woman holding her hand in pain

An Overview of Proteus Syndrome

Medically reviewed by Rochelle Collins, DO

heel stick for newborn screening for diseases such as phenylketonuria

Phenylketonuria (PKU) - Symptoms, Inheritance, and Treatment

Medically reviewed by Sarah Rahal, MD

A woman during an ultrasound check up

The Symptoms, Causes and Treatment Options of Schwartz-Jampel Syndrome

Medically reviewed by Jonathan Cluett, MD

X chromosome, illustration

Hunter Syndrome Symptoms and Treatment

Medically reviewed by Brian Levine, MD

Newborn Babies in hospital

Meckel-Gruber Syndrome

Medically reviewed by Jason DelCollo, DO

girl with progeria condition playing with puzzle

Progeria in Children and Adults

Medically reviewed by Keri Peterson, MD

High density lipoproteins illustration

Abetalipoproteinemia Symptoms and Treatment

Medically reviewed by Keri Peterson, MD

prenatal ultrasound

Jarcho-Levin Syndrome Symptoms and Treatment

Medically reviewed by Brian Levine, MD

a child with Cornelia de Lange Syndrome

Cornelia de Lange Syndrome: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Brian Levine, MD

Cancer patient in a bed receiving chemotherapy

Von Hippel-Lindau Disease and Tumors

Medically reviewed by Jason DelCollo, DO

Trisomy 18 aka Edwards Syndrome is an extra chromosome

Trisomy 18 and Edwards Syndrome

Medically reviewed by Keri Peterson, MD

Scientist with pipette loading DNA gels in laboratory

Zellweger Syndrome Causes and Symptoms

Medically reviewed by Jason DelCollo, DO

Doctor checking crying baby heartbeat on bed

Learn the Symptoms and Treatments of Menkes Disease

Medically reviewed by Brian Levine, MD

Senior Man in Wheelchair

Machado-Joseph Disease Symptoms and Treatment

Medically reviewed by Diana Apetauerova, MD

Nurse taking blood sample from infant's hand

Maple Syrup Urine Disease Symptoms

Medically reviewed by Claudia Chaves, MD

Genetic testing is available for people with hemophilia A and their family members.

Hemophilia A: Genetic Testing and What to Expect

Medically reviewed by Richard N. Fogoros, MD

a young girl with characteristic features of Wolf-Hirschhorn syndrome

Wolf-Hirschhorn Syndrome Symptoms and Diagnosis

Medically reviewed by Rochelle Collins, DO

Child having height recorded by a doctor

Russell-Silver Syndrome Diagnosis and Treatment

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

Asphyxiating thoracic dysplasia AP CXR

What You Should Know About Jeune Syndrome

Medically reviewed by Kashif J. Piracha, MD

Newborn babies in hospital nursery

Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

Medically reviewed by Brian Levine, MD

older woman's hands with splotchy white marks

Waardenburg Syndrome Symptoms, Types, and Treatment

Medically reviewed by Luis Cordero, MD

Parents cradling newborn baby

Beckwith-Wiedemann Syndrome: Symptoms, Cause, Diagnosis

Medically reviewed by Rony Kampalath, MD

Gilbert Syndrome

Gilbert Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Rochelle Collins, DO

Phelan-McDermid Syndrome

Phelan-McDermid Syndrome: Symptoms, Causes, Treatment

Medically reviewed by Cristian Zanartu, MD

Myotonia Congenita

Myotonia Congenita: Symptoms, Causes, and Treatment

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

pseudoachondroplasia

Pseudoachondroplasia: Symptoms, Causes, and Diagnosis

Medically reviewed by Kashif J. Piracha, MD

A doctor examining a newborn baby in an incubator

An Overview of Propionic Acidemia

Medically reviewed by Cristian Zanartu, MD

Science - Ophthalmologist

Kearns-Sayre Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

illustration of cranial nerves

Moebius Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Caitilin Kelly, MD

autosomal recessive diagram

Symptoms and Treatment Options for Carpenter Syndrome

Medically reviewed by Brian Levine, MD

Heterozygous Traits and Diseases

Medically reviewed by Keri Peterson, MD

inclusion body myositis

An Overview of Inclusion Body Myositis

Medically reviewed by Rochelle Collins, DO

Parry Romberg Syndrome

Parry Romberg Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Caitilin Kelly, MD

Alport Syndrome

Alport Syndrome: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Matthew Wosnitzer, MD

Close-up of a crying baby

An Overview of Cri du Chat Syndrome

Medically reviewed by Keri Peterson, MD

A newborn being screened by a doctor

Newborn Screening for Genetic and Metabolic Disorders

Medically reviewed by Lyndsey Garbi, MD

Scientist holding DNA gel in front of samples for testing in laboratory

Overview of Genes, DNA, and Chromosomes

Medically reviewed by Rochelle Collins, DO

Lupus nephritis affects the kidneys.

Gitelman Syndrome Is a Kidney Disorder

Medically reviewed by Caitilin Kelly, MD

medical ear examination

Neurofibromatosis Type 2 Overview

Medically reviewed by Claudia Chaves, MD

Woman in sunhat with sun burn

Xeroderma Pigmentosum Disease Symptoms and Treatment

Medically reviewed by Leah Ansell, MD

chromosomes closeup

Chromosome 16 Disorders and Health

Medically reviewed by Sarah Rahal, MD

Pensive pregnant woman holding stomach in examination room

Seckel Syndrome and Primordial Dwarfism

Medically reviewed by Brian Levine, MD

Bartter Syndrome: Overview and more

Medically reviewed by Caitilin Kelly, MD

A newborn holding mother's finger

Laurence-Moon-Bardet-Biedl Syndrome Diagnosis

Medically reviewed by Brian Levine, MD

A doctor checking the lungs of his patient

Kartagener Syndrome Symptoms and Treatment

Medically reviewed by Brian Levine, MD

Overeating disease in humans. Girl with head back holding cereal bowl to her mouth.

Prader-Willi Syndrome Symptoms and Treatment

Medically reviewed by Sarah Rahal, MD

Skin spot in neurofibromatosis

Neurofibromatosis Type 1 Symptoms and Treatment

Medically reviewed by Diana Apetauerova, MD

Syndactyly, Joined Toes, of Baby

Jackson-Weiss Syndrome Symptoms and Treatment

Medically reviewed by Brian Levine, MD

the myelin sheath appears as segmented tubes wrapped around the axon

Canavan Disease Symptoms, Diagnosis and Treatment

Medically reviewed by Shaheen Lakhan, MD, PhD

Baby laying on white sheet

Leigh's Disease Symptoms and Treatment

Medically reviewed by Claudia Chaves, MD

Father holds his sleeping baby

Joubert Syndrome Symptoms and Treatment

Medically reviewed by Lyndsey Garbi, MD

Blood and urine samples with medical results

Cystinosis Symptoms and Treatment

Medically reviewed by Brian Levine, MD

DNA test results on a computer screen

Overview of Hydrolethalus Syndrome

Medically reviewed by Brian Levine, MD

Vegetables are safe for a PKU diet.

PKU Diet: What to Eat For Better Management

Medically reviewed by Jenny Sweigard, MD

Father burping his baby

Dandy-Walker Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

How Genetic Disorders Are Inherited

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

Woman getting an ultrasound

Bladder Exstrophy: Symptoms, Causes, and Treatment

Medically reviewed by Matthew Wosnitzer, MD

Sotos Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Kashif J. Piracha, MD

Close up of wrinkled skin

Cutis Laxa: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Rony Kampalath, MD

Pfeiffer Syndrome

Pfeiffer Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Cristian Zanartu, MD

Mother checking the temperature of her 4 month old feverish baby boy with a digital thermometer

Severe Combined Immunodeficiencies: Symptoms and More

Medically reviewed by Kashif J. Piracha, MD

Portrait of baby with blue eyes in blue shirt

Disorders of Sexual Development (DSDs)

Medically reviewed by Chris Vincent, MD

Newborn jejunal atresia

Jejunal Atresia: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Anita C. Chandrasekaran, MD, MPH

Barth Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Jason DelCollo, DO

Churg Strauss Syndrome

Churg Strauss Syndrome: Symptoms, Causes, and Treatment

Medically reviewed by Jason DelCollo, DO

PUBS Test: Uses, Side Effects, Procedure, Results

Medically reviewed by Kashif J. Piracha, MD