Makindo Medical Notes"One small step for man, one large step for Makindo" |
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Condition | Description | Tests | Management |
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๐ซ Congenital Heart Defect (e.g., VSD, TOF) | Structural heart abnormality present at birth | Echocardiogram, ECG, CXR, MRI | Surgical repair, meds for heart failure, regular cardiology FU |
๐ง Spina Bifida | Incomplete closure of neural tube | Prenatal USS, AFP, MRI | Early surgical closure, physio, bladder/bowel care |
๐งฌ Down Syndrome (Trisomy 21) | Extra chromosome 21, with dysmorphic features + developmental delay | Karyotype, prenatal screening, echo, TFTs | Early therapies, medical monitoring, educational support |
๐ Cleft Lip/Palate | Failure of fusion of lip/palate structures | Prenatal USS, postnatal exam, ENT/dental assessment | Surgical repair, speech therapy, orthodontics, feeding support |
๐ฆต Congenital Hip Dysplasia | Abnormal development of acetabulum/hip joint | Barlow/Ortolani, USS, X-ray | Pavlik harness, surgery if severe, ortho FU |
๐ฌ๏ธ Cystic Fibrosis | CFTR mutation โ thick mucus in lungs/GI | Sweat chloride test, genetic test, CXR | Airway clearance, enzymes, antibiotics, CF specialist care |
๐ฆ Congenital Hypothyroidism | Absent or underactive thyroid gland | Newborn screen, TFTs, USS | Levothyroxine lifelong, early treatment prevents ID |
๐งช PKU | Defect in phenylalanine metabolism โ toxic accumulation | Newborn Guthrie test, phenylalanine levels | Low-Phe diet, specialist formula, lifelong monitoring |