Down Syndrome |
Trisomy 21, chromosomal disorder |
Intellectual disability, facial features, heart defects |
Early intervention programs, medical management of associated conditions |
Cystic Fibrosis |
Autosomal recessive disorder |
Respiratory issues, digestive problems, salty skin |
Airway clearance techniques, medications, lung transplant (in severe cases) |
Phenylketonuria (PKU) |
Autosomal recessive disorder |
Intellectual disability, musty odor, dietary phenylalanine control |
Low-phenylalanine diet, medical supervision, dietary management |
Tay-Sachs Disease |
Autosomal recessive disorder |
Neurodegeneration, cherry-red spot on the retina, hypotonia |
Supportive care, symptomatic treatment, no cure |
Duchenne Muscular Dystrophy |
X-linked recessive disorder |
Progressive muscle weakness, difficulty walking, heart problems |
Physical therapy, corticosteroids, supportive care |
Spinal Muscular Atrophy (SMA) |
Autosomal recessive disorder |
Muscle weakness, difficulty breathing, loss of motor function |
Disease-modifying therapies, respiratory support |
Cystic Fibrosis |
Autosomal recessive disorder |
Respiratory issues, digestive problems, salty skin |
Airway clearance techniques, medications, lung transplant (in severe cases) |
Sickle Cell Anemia |
Autosomal recessive disorder |
Anemia, pain crises, organ damage |
Blood transfusions, pain management, hydroxyurea |
Marfan Syndrome |
Autosomal dominant disorder |
Tall stature, long limbs, heart defects |
Regular check-ups, surgical intervention, medications |
Neurofibromatosis (NF1) |
Autosomal dominant disorder |
Café-au-lait spots, neurofibromas, learning disabilities |
Monitoring, surgical removal of tumors, management of symptoms |