Pediatric Genetics

These genetic disorders affect the functioning of the heart and cardiovascular system. Examples include:

Cardiomyopathy

Heart muscle tissue is enlarged, thick, stiff, or otherwise damaged and weakened.

Congenital heart defects

Holes in the heart, leaky heart valves, and other structure problems affecting the heart or major blood vessels (aorta and pulmonary veins) that are present from birth.

Irregular heartbeat (arrhythmia)

Your child’s heart has a tendency to beat too fast, too slow, or in an abnormal pattern due to issues with the heart’s electrical system.

Long QT Syndrome

A specific form of arrythmia that makes it more likely for children to experience short episodes of rapid, irregular heartbeats, which may be severe enough to cause fainting, heart palpitations, or in some cases even death.

These disorders occur when one or more chromosomes — the 23 pairs of DNA “packages” that store the entire genetic code — are duplicated, missing, or structurally abnormal. They include:

Down syndrome

Children with this condition have three copies (rather than two) of chromosome 21. This can cause a variety of characteristic symptoms, including mild-to-moderate intellectual disability, developmental delays, and distinct facial features.

Turner syndrome

This condition affects genetic females who are missing all or part of their second X chromosome. This can result in short stature, delayed or stalled puberty, and infertility — although these symptoms may be minimized with hormone therapy and fertility treatment. Other symptoms, such as heart defects, are also possible.

This broad category of conditions can include any issues with the construction and function of your child’s body, which are already present at birth. Common ones include:

Cleft lip and cleft palate

A gap or hole in the upper lift, roof of the mouth (palate), or both due to these tissues never fully closing together in the womb.

Congenital hearing loss

Hearing loss in newborns may be the result of a variety of functional or structure problems, such as abnormal nerve development or defects in the shape of the outer or inner ear.

Limb anomalies

Any of the arms, legs, feet, or hands fail to develop normally or are missing at birth.

These genetic conditions result in abnormal growth patterns in various parts of your child’s body. Examples include:

Overgrowth syndromes

Children with one of these disorders experience excessive growth, either in their entire body or only certain parts of it (such as their bones, blood vessels, or one side of the body). Symptoms vary depending on which areas are affected and how severe the condition is.

Short stature and growth restriction

Some genetic disorders result in children who fail to grow as quickly or as tall as the majority of their peers. This includes conditions like intrauterine growth restriction, which begins in the womb and can lead to a variety of other health problems as well.

Skeletal dysplasia

These disorders cause abnormal growth or development of bones, joints, and cartilage. Examples include achondroplasia (which results in disproportionately short limbs) and osteogenesis imperfecta (also known as brittle bone disease).

These conditions affect the development of the brain and central nervous system, with symptoms usually noticeable at birth or during early childhood. Examples include:

Autism spectrum disorder

This condition affects how children perceive, interpret, and interact with the world and others. A variety of symptoms are possible, including difficulty with language and social skills, repetitive behaviors, focused interests, and sensory processing disorders (such as extreme sensitivity to touch or sound).

Developmental delays

If your child is “late” in developing certain skills (such as walking or talking) compared to their peers, there may be underlying genetic factors partly responsible.

Fetal alcohol spectrum disorders

Children who are exposed to alcohol while still in the womb may develop a variety of symptoms, including intellectual disability, low body weight, or certain abnormal facial features. Although alcohol exposure doesn’t change their genes directly, it can change how those genes function within the body.

Intellectual disability

These conditions impair the development of core mental abilities, such as abstract thinking or problem solving. This can limit their ability to learn everyday life skills.

Neurological conditions are a broad term that includes any disorder affecting the brain or nervous system. Neuromuscular conditions are a subset of neurological conditions that specifically impair the functioning of muscles, motor nerves, or the interactions between them. Examples include:

Epilepsy

Brief, recurring seizures caused by periodic surges of electrical activity in the brain. Symptoms can include loss of consciousness, disorientation, jerking motions, and others. Although symptoms can vary significantly between children with epilepsy, each individual child will tend to have a similar set of symptoms each time they have a seizure.

Hypertonia

Children with this condition develop too much muscle tone, which can make their muscles stiff and difficult to move, with decreased range of motion. Involuntary muscle twitches or jerking is also possible.

Hypotonia

Children with this condition have too little muscle tone. They may look or feel droopy or limp when held and may have difficulty or take longer to develop motor skills like crawling and walking.

These conditions are caused by an abnormal mutation in a specific gene that causes it to malfunction, altering the way the body develops or functions. Most children with single-gene disorders inherit a defective copy of the gene from one or both parents, who may or may not have the condition themselves. However, it’s also possible that a new mutation occurred during fetal development. Examples include:

Achondroplasia

This disorder restricts the growth rate of long bones, resulting in arms and legs that are disproportionately short compared to the rest of the body. It is the most common cause of dwarfism.

Charcot-Marie-Tooth disease

This disorder results in gradual loss of feeling and muscle strength in the hands and feet due to progressive damage to peripheral nerves. Symptoms typically become noticeable in adolescence or early adulthood.

Marfan syndrome

Most children with this syndrome will be tall and skinny, with very long limbs and fingers. Other symptoms are possible, including hyperflexible joints, a curved spine, vision problems, and cardiovascular disease.

Noonan syndrome

Children with this syndrome tend to be born with certain distinct facial features. They are also more likely to develop certain health problems, including short stature, heart disease, vision and hearing problems, easy bruising and bleeding, and learning difficulties.

Osteogenesis imperfecta (brittle bone disease)

This condition results in underdeveloped bones that are more susceptible to fractures and breaks. Other symptoms, including bone deformities and muscle weakness, may occur.

Spinal muscular atrophy (SMA)

This condition causes muscle weakness that worsens over time as motor neurons of the spine begin to fail prematurely. More severe forms of the disease may be noticeable at or shortly after birth, while the mildest forms may not be noticeable under later childhood or even adulthood.

Spinocerebellar ataxia

This disorder disrupts the ability to coordinate physical moments, leading to symptoms like poor balance and slurred speech. Symptoms can begin at any time of childhood or adulthood and worsen over time.

We create customized care plans for children who have been diagnosed with a genetic disorder. This may include:

• Coordinating care with other specialists, such as cardiologists or rehabilitation specialists, who can help with specific conditions
• Developing a monitoring schedule to track progress of the disorder
• Treatments and symptom management strategies

Discovering your child has a genetic condition or is more likely to develop certain health problems due to their genes can leave you with many questions. The purpose of genetic counseling is to help you and your child understand the implications of their disease or risk factors and gain the knowledge you need to support them as they grow. The process may involve:

• Collecting and interpreting personal and family medical histories
• Counseling parents to help them make informed decisions about their or their child’s medical care
• Educating parents and children about inherited conditions

Your child’s DNA is analyzed to diagnose a genetic condition, establish a genetic link to symptoms they might be experiencing, or identify any genetic factors that are known to be linked to a higher risk of future health problems. We offer a variety of tests, such as:

Chromosomal studies

These examine your child’s chromosomes for any abnormalities in their number or structure.

Targeted gene variant tests

Doctors examine a specific set of genes that are more likely to be abnormal in your child due to their symptoms or family history.

Whole exome sequencing

All genes responsible for helping the body construct proteins are analyzed. These genes are responsible for the majority of genetic diseases, despite making up a relatively small percentage of the overall genetic code.

Whole genome sequencing

Your child’s entire genetic code is analyzed for any abnormalities.