Kabuki syndrome is caused by a mutation in the KMT2D gene or the KDM6A gene, whereas, in some cases, the cause remains unknown. Read more: How Does Kabuki Syndrome Happen? Article
Multimedia: Slideshows, Images & Quizzes
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Childhood Diseases: Measles, Mumps, & More
Is your child at risk for these childhood diseases? Know when to call the doctor for conditions such as measles, mumps, ringworm,...
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Common Childhood Skin Disorders
What are the most common skin rashes in children? Learn about childhood eczema, ring worm, chicken pox and more. Get the facts on...
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10 Common Symptoms in Infants and Young Toddlers
Watch this slideshow to see common symptoms and home treatment for infant and childhood illnesses including fever, nausea,...
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Eye Health: Changes in Vision as You Age
What are your eye problems? Conditions like cataracts, glaucoma, droopy eyelids, age-related macular degeneration, and other eye...
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Eye Health: Eye Mistakes You Might Be Making
You may be hurting your eyes and not even know it. Find out if you are and what you can do to stop it.
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Family Health History: Genetics, DNA Testing and Your Health
WebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.
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Parenting: How Can Parents Encourage Independence and Learning in Their Children?
What to know about your child's growth and development. Learn more about how to encourage independence and learning in your child.
Related Disease Conditions
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Genetic Diseases
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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Hydronephrosis
Hydronephrosis describes swelling of the kidney resulting from the inability of urine to drain from the kidney into the bladder. This may be a normal variant or it may be due to an underlying illness or medical condition. Symptoms of acute hydronephrosis may include intense flank or back pain radiating to the groin, nausea, vomiting, bloody urine, sweating, and colicky pain, which may cause the person to writhe or roll around or pace in pain.
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Can a Child With Microcephaly Be Normal?
Microcephaly in children is a rare condition. Some children with microcephaly are both with normal intelligence and have normal developmental milestones, but their heads will always be smaller than normal children for their age and sex. Even in such cases, a regular follow-up with the doctor is advised.
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Down Syndrome
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.
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Can Microcephaly Go Away?
Microcephaly is a permanent condition that currently has no cure; however, treatment aims to minimize symptoms and improve the affected child’s abilities.
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What Are the Three Types of Learning Disabilities?
Treating dysgraphia may take weeks or even months, but patience is essential. Dysgraphia generally occurs among children aged below 15 years, but this specific learning disability may also be present in adults as well.
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Is Severe Hydronephrosis Serious?
Severe hydronephrosis can increase the risk of urinary tract infection (UTI). UTI associated with high fever leads to kidney infection (pyelonephritis).
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What Is an EGFR Exon 20 Mutation?
EGFR protein helps cells grow and divide (increase in number). EGFR exon 20 mutations involve a specific site on the EGFR gene called the exon 20 (region on the EGFR gene that contains part of the genetic code required for the formation of EGFR protein).
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How Do You Treat Gastrointestinal Illness?
Depending on the cause, treatment of gastrointestinal (GI) illnesses may include lifestyle changes, prebiotics, probiotics, medications, or in some cases, surgery.
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How Is PIK3CA Mutation Treated?
The FDA approved the drug Piqray (alpelisib) for the treatment of PIK3CA mutations associated with advanced breast cancer. Learn about PIK3CA mutation and Piqray drug side effects.
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Can Congenital Heart Defects Be Cured?
Congenital heart disease or a congenital heart defect is a medical condition that is present in an individual at birth. There are different types of congenital heart defects, ranging from simple conditions that don’t cause symptoms to complex ones that cause severe, life-threatening symptoms.
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Who Should Get Genetic Counselling?
Genetic counseling is the process that helps you in determining hereditary or genetic (running in your family) problems that might affect you or your family. It is done by a trained professional.
Treatment & Diagnosis
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