| A | B |
|---|
| Osteogenesis Imperfecta | fragile bones, ms weakness, joint laxity |
| cystic fibrosis | excess thick mucous in lungs & GI tract, lack digestive enzymes |
| arthrogryposis multiplex congenita | multiple joint contractures, ms weakness, not progressive |
| trisomy 13/Patau's Syndrome | microcephaly, cleft palate, intellectual impairment |
| trisomy 18/Edward's Syndrome | CV, GI, urogenital & skeletal malformations; hypotonic |
| fragile x | intellectual impairment, long face with large forehead, ears and chin. speech delays |
| neurofibromatosis | tumor growth on neurons, ms weakness, vision/hearing impairments |
| juvenile rheumatoid arthritis | affects cartilage, causes joint swelling, pain and stiffness |
| friedrich's ataxia | progressive neural disease causing ms weakness and cardiac impairment |
| prader willi syndrome | developmental delays, hypotonia, insatiable appetite, behavioral problems |
| cri-du-chat syndrome | microcephaly, hypotonia, intellectual impairment, high pitched cry |
| spinal muscle atrophy | progressive degeneration of anterior horn cell causing paralysis, hypotonia, but intelligence is intact |
