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You searched for genetic-disorders
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Pregnancy
Although pregnancy can be an exciting time for future parents, it can also cause anxiety and raise concerns. While parents-to-be can feel reassured in knowing that most babies are born healthy, they may still want additional information about the...
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Health
Muscular dystrophy is a blanket term for genetic-related conditions that cause dysfunction in the body’s muscles. The body replaces the damaged muscle tissue with fat and/or scar tissue, affecting movement and elasticity. While muscular dystrophy...
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Health
Huntington’s Disease (HD) is a rare disorder that affects the brain and nervous system. It is cause by an abnormal gene that can be passed down from parent to child. While it is present from birth, most people with the disease don’t start having...
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Pregnancy
Cystic fibrosis (CF) is a disease that affects a person’s lungs, digestive system, and reproductive systems. It can lead to thickened secretions, which can result in recurrent lung infections, digestive issues, and infertility. CF is genetic, which...
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Health
Muscular dystrophy can be a devastating diagnosis for children and their parents. The progressive muscle condition causes long-term changes in a child’s functioning, which can leave him or her wheelchair-bound. Diagnosis Parents may notice a child...
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Health
Prader-Willi syndrome (PWS) is a rare genetic disorder present at birth that results in a number of physical, mental, and behavioral problems, most notably a constant sense of hunger that usually begins at about 2 years of age. PWS is the most...
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Health
Ectodermal dysplasias are a rare group of genetic disorders used to describe a group of conditions involving the skin, teeth, hair, nails, and sweat/mucous glands. Multiple syndromes can be associated with ectodermal dysplasias, ranging from mild...
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Health
While advanced maternal age has been linked with increased risk for child health problems, researchers are learning more about how paternal age may impact a child. Increasing paternal age has been linked with increased risks for some mental health...
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Baby
In the United States, 2-3 out of every 1,000 babies are born with a hearing deficit, according to the National Institutes of Health. Fortunately, all newborns are screened at birth for hearing loss, which helps identify babies that need early...
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Health
Muscular dystrophy is a group of diseases in which the muscles of the body are slowly broken down over time due to a faulty gene. The muscles become weak as the disease progresses, so mild muscle weakness slowly evolves to include even the muscles...
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Health
What is Cerebral palsy? Cerebral palsy (CP) is a disorder affecting a person’s ability to move and maintain balance and posture. Cerebral refers to the brain, and palsy refers to a weakness or problem using the muscles. CP is caused by damage to...
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Pregnancy
A review of babies born via caesarean section has some possibly sobering news: they might be at slightly higher risk for developing autism spectrum disorders. The review, published in 2014 in the Journal of Child Psychology and Psychiatry, examined...
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Health
Landau-Kleffner syndrome (LKS) is a seizure disorder that is classified as a form of epilepsy. About 25-30 percent of children who have LKS do not experience overt or obvious seizure symptoms, according to the American Speech-Language-Hearing...
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Health
During a typical conception, a sperm carrying either an X or Y chromosome fertilizes an egg, which already has an X chromosome. An XY pairing is a boy; an XX chromosome pairing is a girl. Abnormalities in the genes on these or other chromosomes can...
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Health
We all know the pain that comes with wearing shoes too tight. It starts off with just a little pinch, then a rub, maybe a blister forms, and finally a delicate sore forms that hurts out of proportion to its size. Imagine if even the simplest touch...
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Health
Most people have heard of Cystic Fibrosis (CF), but unless a friend or loved one suffers from this genetic disease, you may not be aware of its devastating effects. Because of the defective CF gene, the body produces thick mucous, causing the...
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Pregnancy
At some point, many pregnant parents-to-be will hear about the potential benefits of banking cord blood. This service is offered through public cord blood banks, where parents can donate cord blood anonymously for general use, or they can bank...
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Health
Parents face many ethical dilemmas, but one of the most difficult (and controversial) can be when parents have an intersex child: a child who has a disorder of sexual development (DSD). Collectively, there are more than 60 conditions that can cause...
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Parenting
Most children will experience intense emotional and physical changes as they grow, and tantrums are typical, but a line exists between normal acting out and abnormal, negative behavior. When a child’s behavior becomes aggressive, deceitful,...
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Blog
As a parent, you just want what is best for your children and for your family. You are constantly striving to give them the best life possible – educating them, protecting them, and showing them how to enjoy life to the fullest. That is why, when...
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Pregnancy
Sickle cell anemia is a disorder where a certain type of hemoglobin — a compound found in red blood cells that is responsible for helping transport oxygen — is abnormally formed. This changes the shape of a person’s red blood cells from a circular...
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Health
Hepatoblastoma, a liver cancer, is a very rare condition in children, with an estimated 0.9 per 1 million children experiencing the condition, according to St. Jude Children’s Hospital. Hepatoblastoma is most commonly diagnosed in children from...
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Pregnancy
By definition, recurrent miscarriages (also known as recurrent pregnancy loss) is the loss of two or more pregnancies. A single miscarriage may be devastating for hopeful parents-to-be, and this emotional toll usually increases as more losses...
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Health
Osteogenesis Imperfecta (OI) is a congenital connective tissue disorder that causes fragile bones and skeletal deformities. This disease affects one in every 5,000-10,000 infants. There does not seem to be an ethnic or racial preference. There are...
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Health
Achondroplasia is a rare genetic disorder affecting one out of every 26,000-40,000 babies. There are more than 250,000 people worldwide afflicted with this disease. If a baby has achondroplasia, it will usually be evident at birth. Many patients...
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Baby
Parents are often devastated when they find out their newborn has a congenital birth defect. An uncommon cause of birth defects includes amniotic bands. Amniotic band sequence (ABS) involves a group of disorders that result in birth defects of the...
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Pregnancy
During amniocentesis, your healthcare provider takes a sample of your amniotic fluid to gather information about the health of your baby. The sample is removed using a fine needle and with the assistance of ultrasound. An amniocentesis can help...
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Pregnancy
Welcome to Week 12! We’ve been saying it for a few weeks now, but if you’ve been suffering from morning sickness, those symptoms should really start to lessen now. Heading into your second trimester, this is when the growth really begins—for you...
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Health
Each day, hour, minute, and second, your heart is beating to a regular rhythm that provides life-giving oxygen, blood, and nutrients to your body. If something occurs to disrupt the normal heart rhythm, the effects can be fatal. A sudden arrhythmia...
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Health
Of all the congenital deformities affecting infants, abnormalities of the fingers and toes are among the most common. Two of the most common deformities include extra digits (polydactyly) and webbed digits (syndactyly). Extra fingers and toes occur...
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Health
Sickle cell disease (SCD) is an inherited group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin...
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Health
Sickle cell disease (SCD) is an inherited group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin...
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Health
There is a good reason your child’s pediatrician measures your baby’s head circumference at each check-up. A baby’s head typically grows in a very predictable pattern that can be followed on a standardized growth chart. However, when a baby’s head...
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Pregnancy
Almost every pregnant woman has the same fear: that their bag of water will break in some public place and leave a huge, embarrassing trail of fluid for all to see. Luckily that isn’t the case for many, but here’s a look at what amniotic fluid is...
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Health
Turner syndrome (TS) is a chromosomal condition that affects 1 in 2,500 newborn females. About half are diagnosed by a pediatrician within the first few months of life because of characteristic physical features. The other half are usually...
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Parenting
Making the decision to permanently prevent pregnancy can be as powerful as the decision to have children in the first place. Individuals should discuss carefully with their partner, physician, and/or a therapist who specializes in fertility issues....
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Health
Cerebral palsy (CP) is a disorder affecting a person’s ability to move and maintain balance and posture. Although CP has no cure, treatment should be focused on maximizing a child’s capabilities. In general, the sooner interventions are started,...
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Health
Klinefelter syndrome is a chromosomal condition that affects 1 in 500 to 1,000 newborn males. People typically have two sex chromosomes in each cell: females have two X chromosomes (XX), while males have one X chromosome and one Y chromosome (XY)....
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Health
Clubfoot is a common foot deformity among infants; it is usually identified right after birth. The term “clubfoot” refers to the way the foot is positioned at a sharp angle to the leg, resembling the head of a golf club, and can be due to a range...
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Pregnancy
Amniotic fluid is the fluid that surrounds your baby while he or she is in the uterus, and it contributes to the perfect environment needed for your baby to grow and develop. However, more is not always better, and the condition known as...
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Pregnancy
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Blog
A new virus known as the Zika virus has started to make headlines, and with good reason: its recent spread in Brazil has been linked to a huge increase in the number of babies born with microcephaly. Because of this, the Centers for Disease Control...
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Blog
On Jan. 6, a very special delivery happened at The Medical Center of Plano in Texas: a grandmother, who was acting as a gestational carrier (the more updated version of what we used to call a surrogate) for her very own daughter, delivered her...
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Health
We all perceive and understand the world through our senses: smell, touch, sight, taste, sound, and movement—but not everybody experiences the world in the same way. For example, some people may love the sensation of sand beneath their feet, while...
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Health
Have you ever wondered if your baby or young child can hear you? In the United States, 2-3 out of every 1,000 infants are born with a hearing deficit, according to the National Institutes of Health. Hearing loss in an infant or young child can lead...
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Health
Childhood cancers are the leading cause of death among children ages 1-14 years old, and an estimated 1 in 10,000 children in the United States are diagnosed with cancer annually, according to the National Cancer Institute (NCI). Although some...
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Health
Before a diagnosis of ADHD can be made, doctors and mental health professionals must gather information through various screening tools. The screening process can involve clinical interviews, observations from teachers and parents, psychological...
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Health
Every so often, an illness outbreak peaks in the United States, raising red flags with health officials. Inevitably, the ensuing coverage of the illness ignites fear and panic in the hearts of parents everywhere. Acute flaccid myelitis (AFM) is a...
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Baby
Coarctation of the aorta describes a narrowing of the aorta, which is the major artery carrying blood from the heart to the body. The congenital condition constricts blood flow from the heart to the lower part of the body. About four out of every...
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Health
Hypotonia, sometimes referred to as floppy infant syndrome, is a condition characterized by the loss of muscle tone. Instead of the normal resistance you would feel when pressing on a muscle, the muscles of children with hypotonia feel soft and...
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Health
Angelman Syndrome (AS) is a rare neurologic disorder that causes developmental delays, seizures, and abnormal movements. People who have the syndrome tend to laugh and smile frequently, but they usually have delayed speech. The condition is also...