Condition Lookup
Category:
Genetic and Rare Disorders
Number of Conditions: 5
Down syndrome
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Chromosomal Disorders
Symptoms:
intellectual disability; delayed physical growth; characteristic facial features (e.g., flattened face, almond-shaped eyes); hypotonia (low muscle tone); short stature; congenital heart defects; hearing loss; speech delay
Root Cause:
Down syndrome is caused by an extra copy of chromosome 21, leading to developmental and intellectual delays.
How it's Diagnosed: videos
Diagnosed through prenatal testing (e.g., amniocentesis, chorionic villus sampling) or postnatal chromosomal analysis (karyotype testing).
Treatment:
There is no cure for Down syndrome, but treatments include early interventions (e.g., speech, physical, and occupational therapy), educational support, and medical treatment for associated conditions (e.g., heart surgery, hearing aids).
Medications:
Medications are typically used to manage associated conditions. For example, if a child has hypothyroidism, thyroid hormone replacement (e.g., levothyroxine ) may be prescribed. Other medications may include anti-seizure drugs if epilepsy is present.
Prevalence:
How common the health condition is within a specific population.
Down syndrome occurs in approximately 1 in 700 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Maternal age (older mothers have a higher risk), family history, genetic mutations.
Prognosis:
The expected outcome or course of the condition over time.
Individuals with Down syndrome typically live into their 60s or longer with proper care, but may face intellectual and developmental challenges. Early intervention improves long-term outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of heart defects, respiratory problems, digestive issues, hearing and vision problems, thyroid disorders, leukemia, and Alzheimer’s disease in older adults.
Turner syndrome
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Chromosomal Disorders
Symptoms:
short stature; ovarian dysfunction leading to infertility; webbed neck; lymphedema (swelling of hands and feet); heart defects; skeletal abnormalities; learning difficulties
Root Cause:
Turner syndrome occurs when one of the X chromosomes is missing or partially missing in females, leading to various developmental and physical issues.
How it's Diagnosed: videos
Diagnosed through karyotype analysis, which reveals the presence of a missing or incomplete X chromosome.
Treatment:
Growth hormone therapy (to increase height), estrogen therapy (to induce puberty and maintain secondary sexual characteristics), and medical management for heart defects and kidney problems.
Medications:
Growth hormone (somatropin ) to increase height during childhood, estrogen therapy to induce puberty, and hormone replacement therapy (HRT) for adults to manage menopausal symptoms and prevent osteoporosis.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 2,500 live female births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
The condition is not inherited and occurs randomly due to chromosomal abnormalities during cell division.
Prognosis:
The expected outcome or course of the condition over time.
With treatment, individuals can lead relatively normal lives, though they may face infertility, short stature, and some learning challenges.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of heart defects (especially aortic dissection), kidney problems, osteoporosis, and hearing loss.
Klinefelter syndrome
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Chromosomal Disorders
Symptoms:
tall stature; reduced muscle tone; infertility; gynecomastia (enlarged breasts in males); language and learning difficulties; social and emotional challenges; small testes
Root Cause:
Klinefelter syndrome occurs when males have an extra X chromosome (XXY), leading to physical and developmental challenges.
How it's Diagnosed: videos
Diagnosed through karyotype analysis or genetic testing, which reveals the presence of an extra X chromosome.
Treatment:
Testosterone replacement therapy to address low testosterone levels and promote development of male secondary sexual characteristics, speech and physical therapy, and fertility treatment options for those seeking to have children.
Medications:
Testosterone replacement therapy (e.g., testosterone enanthate , testosterone cypionate ) to address low levels of testosterone . Other medications may be used to manage associated conditions like osteoporosis.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 600 male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Most cases occur randomly due to errors in sperm or egg cell division.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate treatment (e.g., testosterone therapy), individuals can lead productive lives. However, infertility and learning difficulties may persist.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of osteoporosis, breast cancer, autoimmune disorders, and metabolic syndrome.
Duchenne Muscular Dystrophy
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Rare Genetic Disorders
Symptoms:
progressive muscle weakness; difficulty walking; frequent falls; muscle cramps; waddling gait; enlarged calves; difficulty with motor skills (such as climbing stairs); respiratory issues; heart problems
Root Cause:
Caused by mutations in the DMD gene, leading to a deficiency of dystrophin, a protein essential for muscle function.
How it's Diagnosed: videos
Diagnosed through genetic testing (looking for mutations in the DMD gene), muscle biopsy, serum creatine kinase (CK) levels, and electromyography (EMG).
Treatment:
No cure, but treatment aims to manage symptoms and improve quality of life. Physical therapy, corticosteroids (such as prednisone), heart medications (for cardiomyopathy), respiratory support, and surgical interventions to address contractures.
Medications:
Prednisone (a corticosteroid used to slow muscle degeneration), Deflazacort (another corticosteroid), and various heart medications such as ACE inhibitors or beta-blockers for heart complications. These are classified as corticosteroids and cardiology medications.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 3,500 to 5,000 live male births worldwide. It is an X-linked disorder, so it predominantly affects males.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Duchenne muscular dystrophy, mutations in the DMD gene.
Prognosis:
The expected outcome or course of the condition over time.
Life expectancy has increased with improved care, but most individuals will experience loss of ambulation by adolescence and face significant respiratory and cardiac issues by their 20s or 30s.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive muscle weakness, scoliosis, joint contractures, respiratory failure, cardiac complications (such as cardiomyopathy), and reduced life expectancy.
Williams Syndrome
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Rare Genetic Disorders
Symptoms:
distinctive facial features (such as a broad forehead, full cheeks, and a wide mouth); cardiovascular problems (especially supravalvular aortic stenosis); developmental delays; learning disabilities; hypercalcemia (elevated calcium levels); social personality (extremely outgoing and friendly); anxiety disorders; poor coordination and motor skills
Root Cause:
Caused by a deletion of genetic material on chromosome 7, including the elastin gene, which leads to the cardiovascular issues and other symptoms.
How it's Diagnosed: videos
Diagnosed via genetic testing (FISH analysis) to detect the chromosome 7 deletion.
Treatment:
Management focuses on addressing the cardiovascular issues (e.g., surgery or monitoring for aortic stenosis), developmental and speech therapy, and interventions for anxiety or other behavioral issues.
Medications:
No specific medications for the condition itself, but medications such as beta-blockers or ACE inhibitors may be prescribed for cardiovascular issues. Anti-anxiety medications (e.g., selective serotonin reuptake inhibitors) may also be used.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 7,500 to 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Williams syndrome is typically caused by a spontaneous genetic mutation (deletion on chromosome 7) and is not usually inherited.
Prognosis:
The expected outcome or course of the condition over time.
Individuals often live into adulthood with appropriate medical management, particularly for cardiovascular health. They tend to have a distinctive, socially engaging personality, but cognitive and developmental delays are common.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiovascular issues (such as aortic stenosis, hypertension), learning disabilities, anxiety, hypercalcemia, and motor difficulties. Cardiovascular complications are the leading cause of early mortality in individuals with Williams syndrome.