Presentation
Hematological
- Easy Bruising
Showing of 24 | Medical Terms Other Names Learn More: HPO ID 5%-29% of people have these symptoms Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Myopathy Muscle tissue disease 0003198 Premature graying of hair Early [rarediseases.info.nih.gov]
Skin
- Thin Skin
0000977 Thin skin 0000963 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bowing of the legs Bowed legs Bowed lower limbs [ more ] 0002979 Diaphyseal cortical sclerosis 0005045 Fibrosarcoma [rarediseases.info.nih.gov]
Musculoskeletal
- Proximal Muscle Weakness
Uneven increase in bone density 0005686 Pathologic fracture Spontaneous fracture 0002756 Presenile cataracts 0007819 Progressive Worsens with time 0003676 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Skeletal muscle [rarediseases.info.nih.gov]
- Myopathy
Showing of 24 | Medical Terms Other Names Learn More: HPO ID 5%-29% of people have these symptoms Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Myopathy Muscle tissue disease 0003198 Premature graying of hair Early [rarediseases.info.nih.gov]
- Osteopenia
0100244 Fractures of the long bones 0003084 Histiocytoma 0012315 Limb muscle weakness Limb weakness 0003690 Limb-girdle muscle weakness 0003325 Metaphyseal striations 0031367 Osteomyelitis leading to amputation due to slow healing fractures 0005010 Osteopenia [rarediseases.info.nih.gov]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]