Condition Lookup
Sub-Category:
Imprinting Disorders
Number of Conditions: 4
Prader-Willi Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
hypotonia (low muscle tone) in infancy; feeding difficulties in infancy; hyperphagia (excessive hunger); obesity; intellectual disabilities; behavioral problems; short stature; small hands and feet; hypogonadism; distinct facial features
Root Cause:
Caused by loss of function of genes on the paternal copy of chromosome 15, typically due to a deletion, uniparental disomy, or imprinting defect.
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation analysis to confirm abnormal imprinting on chromosome 15).
Treatment:
Multidisciplinary care, including strict dietary supervision, behavioral therapy, physical therapy, and hormone replacement therapy (e.g., growth hormone).
Medications:
Growth hormone therapy (to improve growth, body composition, and physical strength), and occasionally medications for behavioral issues (e.g., selective serotonin reuptake inhibitors [SSRIs] for compulsive behaviors or mood stabilization).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 15,000 to 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors beyond genetic inheritance patterns; sporadic occurrence.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan is generally reduced due to complications of obesity or associated conditions, but with proper management, individuals can achieve a relatively good quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe obesity, type 2 diabetes, sleep apnea, cardiovascular disease, scoliosis, and behavioral issues.
Angelman Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
severe developmental delays; speech impairment or absence of speech; frequent laughter or smiling; ataxia (balance and movement difficulties); seizures; intellectual disability; distinctive facial features; sleep disturbances
Root Cause:
Caused by loss of function of the UBE3A gene on the maternal copy of chromosome 15, typically due to a deletion, uniparental disomy, or mutation.
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation analysis, UBE3A gene testing, and fluorescence in situ hybridization [FISH]).
Treatment:
Supportive care, including physical therapy, speech therapy, behavioral interventions, anticonvulsants for seizures, and sleep management strategies.
Medications:
Anticonvulsants (e.g., valproic acid, levetiracetam ) for seizure control; melatonin or sedative medications for sleep disturbances.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 12,000 to 1 in 20,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors beyond genetic inheritance patterns; sporadic occurrence.
Prognosis:
The expected outcome or course of the condition over time.
Life expectancy is near normal, but individuals require lifelong supportive care due to severe developmental disabilities.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures, sleep problems, scoliosis, difficulty with mobility, and feeding issues.
Beckwith-Wiedemann Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
overgrowth; macroglossia (enlarged tongue); abdominal wall defects; hypoglycemia in infancy; ear creases or pits; hemihyperplasia (asymmetric body growth); increased risk of embryonal tumors (e.g., wilms tumor, hepatoblastoma)
Root Cause:
Disruption of normal imprinting on chromosome 11p15, leading to overexpression or underexpression of growth-regulating genes (e.g., IGF2).
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation studies and chromosomal analysis), and screening for associated tumors.
Treatment:
Regular monitoring for tumors, management of hypoglycemia, surgical correction of macroglossia or abdominal wall defects, and supportive care for overgrowth-related issues.
Medications:
No specific medications; supportive care with glucose supplementation for hypoglycemia if needed.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 13,700 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Increased incidence in children conceived through assisted reproductive technologies (ART), although most cases are sporadic.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, most individuals have a normal life expectancy. Regular cancer surveillance is critical in childhood.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Tumor development, feeding difficulties, respiratory issues (due to macroglossia), and orthopedic complications from overgrowth.
Silver-Russell Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Imprinting Disorders
Symptoms:
severe intrauterine growth restriction (iugr); failure to thrive; triangular facial appearance; asymmetry of the limbs or body; feeding difficulties; short stature; delayed bone age
Root Cause:
Disruption of normal imprinting on chromosome 11p15 or maternal uniparental disomy of chromosome 7; affects growth-regulating genes.
How it's Diagnosed: videos
Clinical evaluation, genetic testing (methylation studies on chromosome 11p15 and chromosome 7).
Treatment:
Growth hormone therapy, nutritional support, and physical therapy to address growth and developmental issues.
Medications:
Growth hormone therapy (to improve height and growth); no specific medications beyond supportive care.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 30,000 to 1 in 100,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors beyond genetic inheritance patterns; sporadic occurrence.
Prognosis:
The expected outcome or course of the condition over time.
Normal life expectancy with proper management, though short stature and asymmetry may persist.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Feeding difficulties, hypoglycemia, delayed puberty, and psychosocial challenges related to growth delays and physical asymmetry.