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Symptoms: Joint pain, swelling, stiffness Diagnosis: Physical exam, blood tests, imaging tests Treatment: Nonsteroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs), physical therapy

Symptoms: Yellowing of the skin and eyes, poor feeding, dark urine Diagnosis: Bilirubin level test Treatment: Phototherapy, adequate hydration, in severe cases exchange transfusion

Symptoms: Asymmetry in leg length, limited range of motion on one side, thigh folds appear uneven Diagnosis: Physical examination, ultrasound or X-ray Treatment: Pavlik harness, bracing, surgery in severe cases

Symptoms: Social communication challenges, repetitive behaviors Diagnosis: Developmental screening, comprehensive diagnostic evaluation Treatment: Behavior therapy, speech therapy, occupational therapy

Symptoms: Anemia, pain crises, swelling in hands and feet Diagnosis: Hemoglobin electrophoresis, complete blood count Treatment: Pain management, hydroxyurea, blood transfusions

Symptoms: Swollen salivary glands, fever, muscle aches Diagnosis: Clinical evaluation, confirmation with lab tests Treatment: Supportive care, pain relief, hydration

Symptoms: Jaundice, constipation, poor muscle tone Diagnosis: Newborn screening (TSH, T4 levels) Treatment: Daily thyroid hormone replacement

Symptoms: Persistent cough, frequent lung infections, poor growth Diagnosis: Sweat test, genetic testing Treatment: Chest physical therapy, pancreatic enzyme supplements, CFTR modulators

Symptoms: Fever, rash, runny nose Diagnosis: Clinical assessment, blood test for antibodies Treatment: Supportive care, vitamin A supplementation

Symptoms: Cyanosis, difficulty breathing, fainting Diagnosis: Echocardiogram, cardiac catheterization Treatment: Surgical repair

Symptoms: Cyanosis, fatigue, shortness of breath Diagnosis: Echocardiogram, cardiac MRI Treatment: Medication, surgery, cardiac catheterization procedures

Symptoms: Frequent urination, increased thirst, weight loss Diagnosis: Blood glucose tests, glycated hemoglobin (A1C) Treatment: Insulin therapy, diet management, exercise

Symptoms: Diarrhea, bloating, abdominal cramps Diagnosis: Hydrogen breath test, lactose tolerance test Treatment: Dietary modifications, lactase enzyme supplements

Symptoms: Wheezing, coughing, shortness of breath Diagnosis: Spirometry, peak flow measurement Treatment: Inhaled corticosteroids, bronchodilators

Symptoms: Inattention, hyperactivity, impulsivity Diagnosis: Clinical evaluations, behavior rating scales Treatment: Stimulant medications, behavioral therapy

Symptoms: High fever followed by a rash Diagnosis: Clinical diagnosis based on symptoms and rash Treatment: Supportive care, antipyretics for fever

Symptoms: Itchy rash, fever, fatigue Diagnosis: Clinical diagnosis by rash appearance Treatment: Supportive care, antihistamines for itching, antiviral drugs in severe cases

Symptoms: Distinct facial appearance, intellectual disability, developmental delays Diagnosis: Prenatal screening, chromosomal analysis Treatment: Early intervention, educational support, medical management of associated conditions

Symptoms: Painful sores in the mouth, rash on hands and feet Diagnosis: Clinical diagnosis based on symptoms Treatment: Supportive care, pain relief, mouthwash to relieve sore throat

Symptoms: Fatigue, fever, frequent infections Diagnosis: Blood tests, bone marrow aspiration Treatment: Chemotherapy, targeted therapy, stem cell transplant

Symptoms: Ear pain, itching, discharge from the ear Diagnosis: Visual inspection, clinical signs, and symptoms Treatment: Topical antibiotics, pain relief, keeping the ear dry

Symptoms: Severe coughing fits, whooping sound during inhalation, vomiting after coughing Diagnosis: Nasopharyngeal swab, PCR testing Treatment: Antibiotics, supportive care

Symptoms: Barking cough, hoarse voice, difficulty breathing Diagnosis: Clinical diagnosis, sometimes a neck X-ray Treatment: Humidified air, corticosteroids, epinephrine in severe cases

Symptoms: Fever, rash, swelling of hands and feet Diagnosis: Clinical criteria, echocardiogram to assess heart involvement Treatment: Intravenous immunoglobulin (IVIG), aspirin

Symptoms: Intense crying for at least three hours a day Diagnosis: Rule out other causes, clinical pattern of crying Treatment: Reassurance, changing feeding techniques, soothing measures

Symptoms: Abdominal mass, abdominal pain, blood in the urine Diagnosis: Imaging (ultrasound, CT, MRI), biopsy Treatment: Surgery, chemotherapy, radiation therapy

Symptoms: Brief, sudden muscle contractions, developmental delays Diagnosis: Electroencephalogram (EEG), brain imaging Treatment: Hormonal therapy (ACTH), antiepileptic drugs

Symptoms: Loss of motor skills, repetitive hand movements, seizures Diagnosis: Genetic testing for MECP2 mutation Treatment: Supportive care, therapies for speech and movement, medication for seizure control

Symptoms: Ear pain, fever, trouble hearing Diagnosis: Otoscopic examination Treatment: Antibiotics in severe cases, pain relief

Symptoms: Diarrhea, vomiting, abdominal pain Diagnosis: Clinical assessment, stool tests to identify pathogens Treatment: Rehydration therapy, probiotics, appropriate diet

Symptoms: Wheezing, coughing, difficulty breathing Diagnosis: Clinical assessment, chest X-ray Treatment: Supportive care, hydration, oxygen therapy in severe cases

Symptoms: High blood pressure, headache, muscle weakness Diagnosis: Echocardiogram, MRI Treatment: Surgical repair, balloon angioplasty

Symptoms: Muscle weakness, difficulty walking, heart problems Diagnosis: Creatine kinase (CK) blood test, genetic testing, muscle biopsy Treatment: Corticosteroids, physical therapy, assistive devices

Symptoms: Fatigue, pale skin, irritability Diagnosis: Complete blood count (CBC), serum ferritin level Treatment: Iron supplements, dietary changes

Symptoms: Swollen belly, constipation, gas Diagnosis: Rectal biopsy, anorectal manometry Treatment: Surgery to remove the diseased part of the colon

Symptoms: Abnormal gait, impaired movement, muscle stiffness Diagnosis: Neuroimaging, developmental monitoring Treatment: Physical therapy, medications for muscle spasticity, orthopedic interventions