Condition Lookup

Down syndrome (trisomy 21)

Specialty: Genetics

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
distinct facial features (e.g., flat facial profile, small ears, upward slanting eyes); intellectual disability; delayed development; hypotonia (low muscle tone); short stature; congenital heart defects; increased risk of thyroid disorders and leukemia

Root Cause:
Presence of an extra copy of chromosome 21, resulting in trisomy.

How it's Diagnosed: videos
Prenatal screening (e.g., nuchal translucency scan, maternal blood tests), diagnostic tests (e.g., amniocentesis, chorionic villus sampling), and postnatal clinical examination confirmed by karyotyping.

Treatment:
Supportive care, developmental therapies (e.g., speech, physical, occupational therapy), and management of associated medical conditions (e.g., cardiac surgery for heart defects).

Medications:
No specific medications for the chromosomal condition; treatments target associated conditions such as thyroid hormone replacement (levothyroxine ) for hypothyroidism.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 700 live births globally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age, family history of Down syndrome, previous child with Down syndrome.

Prognosis: The expected outcome or course of the condition over time.
Varies; life expectancy has increased significantly with medical care, now averaging around 60 years.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Congenital heart defects, respiratory infections, thyroid dysfunction, Alzheimer’s disease in later life.

Edwards syndrome (trisomy 18)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
severe intellectual disability; microcephaly; low birth weight; clenched fists with overlapping fingers; rocker-bottom feet; congenital heart defects; feeding difficulties

Root Cause:
Presence of an extra copy of chromosome 18, resulting in trisomy.

How it's Diagnosed: videos
Prenatal screening (e.g., non-invasive prenatal testing, ultrasound findings), diagnostic tests (amniocentesis or chorionic villus sampling), and postnatal karyotyping.

Treatment:
Supportive care, palliative measures, and management of specific symptoms (e.g., feeding support, surgical repair of heart defects if feasible).

Medications:
No specific medications; treatments are symptomatic. For associated conditions, antibiotics for infections or anticonvulsants for seizures may be used.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 5,000 live births; higher incidence in pregnancies, but most are lost prenatally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age.

Prognosis: The expected outcome or course of the condition over time.
Poor; most affected infants die within the first year of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, severe developmental delays, feeding difficulties, and congenital abnormalities.

Patau syndrome (trisomy 13)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
severe intellectual disability; microcephaly; cleft lip and/or palate; polydactyly; congenital heart defects; kidney abnormalities; holoprosencephaly (failure of the brain to divide properly)

Root Cause:
Presence of an extra copy of chromosome 13, resulting in trisomy.

How it's Diagnosed: videos
Prenatal screening, diagnostic tests (amniocentesis or chorionic villus sampling), and postnatal karyotyping.

Treatment:
Supportive care, palliative measures, and management of individual symptoms.

Medications:
Symptomatic treatments only; anticonvulsants for seizures and antibiotics for infections may be used.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 10,000 to 20,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal age.

Prognosis: The expected outcome or course of the condition over time.
Very poor; median survival is about 7 to 10 days, with most affected infants dying within the first year of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe developmental delays, feeding difficulties, and organ malformations.

Turner syndrome (45, X)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
short stature; webbed neck; amenorrhea; infertility; broad chest with widely spaced nipples; coarctation of the aorta; low-set ears; learning difficulties

Root Cause:
Missing or partially missing X chromosome in females.

How it's Diagnosed: videos
Prenatal testing (e.g., amniocentesis), clinical features, confirmed by karyotyping.

Treatment:
Growth hormone therapy, estrogen replacement therapy, and management of associated conditions.

Medications:
Growth hormone (somatropin ), estrogen, and progesterone replacement therapies.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 2,000 live female births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Not typically associated with maternal age.

Prognosis: The expected outcome or course of the condition over time.
Normal lifespan with appropriate treatment, but may have complications like infertility and cardiac issues.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, cardiovascular disease, infertility.

Klinefelter syndrome (47, XXY)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
tall stature; reduced muscle mass; gynecomastia (enlarged breast tissue); small testes; low testosterone levels; infertility; learning difficulties; delayed puberty

Root Cause:
Presence of an extra X chromosome in males.

How it's Diagnosed: videos
Karyotyping, blood hormone levels (low testosterone, high FSH/LH), clinical examination.

Treatment:
Testosterone replacement therapy, speech and physical therapy, fertility treatment (e.g., assisted reproductive technologies).

Medications:
Testosterone (androgen replacement therapy).

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 600 to 1,000 live male births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced parental age slightly increases the risk.

Prognosis: The expected outcome or course of the condition over time.
Normal life expectancy with appropriate treatment; infertility is common but can be managed in some cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, metabolic syndrome, cardiovascular issues, and psychological challenges such as anxiety or depression.

Triple X syndrome (47, XXX)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
tall stature; mild developmental delays; learning difficulties; delayed speech and motor skills; anxiety or emotional challenges; infertility (rare)

Root Cause:
Presence of an extra X chromosome in females.

How it's Diagnosed: videos
Karyotyping, genetic testing, and sometimes incidentally during evaluations for other conditions.

Treatment:
Supportive therapies such as speech therapy, educational support, and counseling for emotional or social challenges.

Medications:
No specific medications for the chromosomal condition; symptomatic treatments as needed.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 1,000 live female births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
No specific known risk factors.

Prognosis: The expected outcome or course of the condition over time.
Normal life expectancy; most affected individuals have normal fertility and lead typical lives with some support.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, psychological challenges, and rarely infertility.

XYY syndrome (47, XYY)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Numerical Chromosomal Abnormalities

Symptoms:
tall stature; mild learning disabilities; speech delays; behavioral challenges (e.g., impulsivity, attention difficulties); normal sexual development and fertility

Root Cause:
Presence of an extra Y chromosome in males.

How it's Diagnosed: videos
Karyotyping, genetic testing, and clinical assessment.

Treatment:
Supportive therapies such as speech and occupational therapy, educational support, and behavioral interventions.

Medications:
No specific medications for the chromosomal condition; symptomatic treatments as needed (e.g., ADHD medications if necessary).

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 1,000 live male births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
No specific known risk factors.

Prognosis: The expected outcome or course of the condition over time.
Normal life expectancy and fertility; most individuals lead typical lives with some developmental support.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, behavioral challenges, and emotional difficulties.

Cri-du-chat syndrome (5p deletion)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
high-pitched, cat-like cry in infants; intellectual disability; delayed development; microcephaly; distinct facial features (wide-set eyes, small jaw); low muscle tone (hypotonia); behavioral issues

Root Cause:
Deletion of a portion of the short arm of chromosome 5 (5p).

How it's Diagnosed: videos
Clinical examination, karyotyping, and FISH (fluorescence in situ hybridization) or array-based comparative genomic hybridization (array-CGH).

Treatment:
Symptom management through physical therapy, speech therapy, educational support, and behavioral interventions.

Medications:
No specific medications for the condition; treatments may involve antiepileptic drugs for seizures and medications to manage associated conditions such as ADHD or behavioral issues.

Prevalence: How common the health condition is within a specific population.
Estimated at 1 in 15,000 to 50,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Most cases are de novo (new mutations); rarely, parental chromosomal rearrangements (e.g., balanced translocations) increase the risk.

Prognosis: The expected outcome or course of the condition over time.
Lifelong condition with varying levels of intellectual and physical impairment; early intervention can improve quality of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe intellectual disability, speech difficulties, and potential organ system complications such as cardiac defects.

Wolf-Hirschhorn syndrome (4p deletion)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
distinctive facial features (greek helmet appearance); severe developmental delay; intellectual disability; seizures; poor growth; low muscle tone (hypotonia); congenital heart defects

Root Cause:
Deletion of a portion of the short arm of chromosome 4 (4p).

How it's Diagnosed: videos
Genetic testing including karyotyping, FISH, or array-CGH.

Treatment:
Multidisciplinary approach including physical therapy, anticonvulsants for seizures, and surgical correction of heart defects.

Medications:
Anticonvulsants like levetiracetam , valproic acid, or lamotrigine for managing seizures.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 50,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Mostly de novo deletions; rare cases involve parental balanced chromosomal translocations.

Prognosis: The expected outcome or course of the condition over time.
Lifelong disability; severity varies; early intervention improves developmental outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe intellectual disability, epilepsy, and risk of recurrent respiratory infections.

22q11.2 deletion syndrome (DiGeorge syndrome)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
cardiac defects; immune system deficiencies; palatal abnormalities; hypocalcemia; learning disabilities; psychiatric disorders; distinctive facial features

Root Cause:
Deletion of a portion of chromosome 22q11.2.

How it's Diagnosed: videos
Genetic testing via FISH or microarray analysis; confirmed with clinical symptoms.

Treatment:
Management of specific symptoms including cardiac surgery, calcium supplements, speech therapy, and immune system support.

Medications:
Calcium and vitamin D supplements for hypocalcemia; antipsychotics or antidepressants for psychiatric symptoms.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 4,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Often de novo mutations; 10% are inherited from an affected parent.

Prognosis: The expected outcome or course of the condition over time.
Variable; dependent on the severity of associated defects; early treatment improves outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe immune deficiency, cardiac complications, and increased risk for psychiatric disorders.

Williams syndrome (7q11.23 deletion)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
distinctive facial features; intellectual disability; overly social personality; cardiovascular issues (e.g., supravalvular aortic stenosis); growth delays; hypercalcemia

Root Cause:
Deletion of a region on chromosome 7q11.23.

How it's Diagnosed: videos
FISH or microarray analysis, alongside clinical evaluation.

Treatment:
Symptom management including cardiac surgery, dietary management for hypercalcemia, and educational support.

Medications:
Beta-blockers or antihypertensives for managing cardiovascular symptoms.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 7,500 to 10,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
De novo deletion in most cases; rare familial transmission.

Prognosis: The expected outcome or course of the condition over time.
Variable; cardiac issues can be life-threatening; most individuals live into adulthood with proper care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Cardiac complications, hypercalcemia, and behavioral issues.

Prader-Willi syndrome (15q deletion)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
hypotonia in infancy; poor feeding initially followed by hyperphagia; obesity; intellectual disability; behavioral issues; short stature; hypogonadism

Root Cause:
Loss of paternal genetic material in the 15q11-q13 region, commonly due to deletion or uniparental disomy (maternal inheritance of both copies).

How it's Diagnosed: videos
Methylation analysis and genetic testing to confirm deletion or uniparental disomy.

Treatment:
Management through growth hormone therapy, strict diet, physical activity, and behavioral therapy.

Medications:
Growth hormone to improve height and muscle tone; appetite suppressants or medications for behavioral problems may be considered.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 15,000 to 30,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Most cases are de novo mutations; recurrence risk for siblings is low unless familial chromosomal rearrangements are present.

Prognosis: The expected outcome or course of the condition over time.
Lifelong condition; early intervention improves quality of life; obesity-related complications can affect life expectancy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe obesity, type 2 diabetes, sleep apnea, and behavioral challenges.

Angelman syndrome (15q deletion or UBE3A mutation)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
severe intellectual disability; absent or minimal speech; ataxia; frequent laughter or smiling; seizures; microcephaly

Root Cause:
Loss of function of the maternally inherited UBE3A gene in the 15q11-q13 region, often due to deletion, mutation, or uniparental disomy.

How it's Diagnosed: videos
Methylation analysis, genetic testing for UBE3A mutations, or chromosomal microarray.

Treatment:
Symptom management through physical, occupational, and speech therapies; anticonvulsants for seizures.

Medications:
Anticonvulsants such as valproic acid, clonazepam , or levetiracetam for seizures.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 12,000 to 20,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Usually de novo; rare familial cases involve inherited mutations.

Prognosis: The expected outcome or course of the condition over time.
Lifelong condition; severe developmental challenges, but many individuals have a normal lifespan.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Epilepsy, sleep disturbances, and feeding difficulties.

Smith-Magenis syndrome (17p deletion)

Specialty: Genetics

Category: Chromosomal Disorders

Sub-category: Structural Chromosomal Abnormalities

Symptoms:
mild to moderate intellectual disability; behavioral problems (self-injury, aggression); sleep disturbances; distinctive facial features; speech and motor delays; obesity in adulthood

Root Cause:
Deletion of a portion of the short arm of chromosome 17 (17p11.2) or mutations in the RAI1 gene.

How it's Diagnosed: videos
Genetic testing using microarray analysis or targeted RAI1 gene sequencing.

Treatment:
Symptom-based management including behavioral therapy, melatonin for sleep regulation, and educational interventions.

Medications:
Melatonin or beta-blockers for sleep disturbances; medications for behavioral problems (e.g., risperidone or other antipsychotics).

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 15,000 to 25,000 live births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Mostly de novo mutations or deletions; familial cases are extremely rare.

Prognosis: The expected outcome or course of the condition over time.
Lifelong condition; early intervention improves developmental outcomes; obesity and sleep issues require ongoing management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Behavioral issues, sleep disturbances, and obesity-related health problems.