Condition Lookup
Sub-Category:
Growth Disorders
Number of Conditions: 3
Noonan Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Growth Disorders
Symptoms:
short stature; distinctive facial features; heart defects; webbed neck; developmental delays; low muscle tone; feeding difficulties in infancy
Root Cause:
Caused by mutations in genes involved in the RAS/MAPK signaling pathway, which is critical for cell division, differentiation, and growth.
How it's Diagnosed: videos
Clinical examination based on physical features and symptoms, genetic testing to confirm mutations in associated genes (e.g., PTPN11, SOS1, RAF1).
Treatment:
Multidisciplinary management addressing specific symptoms; growth hormone therapy for short stature, surgery for heart defects, physical therapy for low muscle tone.
Medications:
Growth hormone therapy (somatropin ) can be prescribed for short stature; it is a recombinant human growth hormone. Other treatments are symptom-specific rather than pharmacological.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 1,000 to 2,500 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Noonan syndrome (autosomal dominant inheritance); de novo mutations also occur.
Prognosis:
The expected outcome or course of the condition over time.
Variable; many individuals have normal life expectancy with management, though some may experience complications from cardiac issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Pulmonary valve stenosis, hypertrophic cardiomyopathy, learning disabilities, bleeding disorders, and increased cancer risk.
Russell-Silver Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Growth Disorders
Symptoms:
short stature; triangular-shaped face; body asymmetry; feeding difficulties; delayed bone age; hypoglycemia; micrognathia
Root Cause:
Abnormalities in genes regulating growth, often involving changes in chromosome 11p15 or maternal uniparental disomy of chromosome 7.
How it's Diagnosed: videos
Clinical evaluation based on characteristic features, genetic testing for epigenetic or chromosomal abnormalities.
Treatment:
Growth hormone therapy to improve height, nutritional support for feeding difficulties, and management of hypoglycemia.
Medications:
Growth hormone therapy (somatropin ) is often prescribed for short stature.
Prevalence:
How common the health condition is within a specific population.
Estimated to occur in 1 in 30,000 to 100,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Familial cases are rare; most are sporadic, linked to epigenetic and chromosomal changes.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with appropriate management, though stature often remains below average. Cognitive development is typically unaffected.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Feeding problems, delayed motor development, scoliosis, and hypoglycemia.
Weaver Syndrome
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Growth Disorders
Symptoms:
accelerated growth in infancy; macrocephaly; distinctive facial features; joint laxity; intellectual disability; hypotonia; skeletal abnormalities
Root Cause:
Caused by mutations in the EZH2 gene, which is involved in chromatin remodeling and gene expression.
How it's Diagnosed: videos
Clinical examination of growth and developmental patterns, genetic testing for EZH2 mutations.
Treatment:
Supportive care for developmental delays, physical therapy for joint and muscle issues, orthopedic interventions for skeletal abnormalities.
Medications:
No specific medications are used for Weaver syndrome; treatment is symptomatic and supportive.
Prevalence:
How common the health condition is within a specific population.
Extremely rare, with only a few hundred cases reported worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Typically occurs sporadically due to de novo mutations, though familial cases with autosomal dominant inheritance are possible.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable depending on the severity of symptoms and associated complications; intellectual disability may impact long-term outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint problems, scoliosis, delayed motor development, and increased risk of certain cancers.