Presentation
Entire Body System
- Disproportionate Short Stature
[…] fingers or toes 0001156 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate short stature 0003498 Dolichocephaly [rarediseases.info.nih.gov]
Skin
- Short Nails
[…] metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short nail Short nails 0001799 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Thoracolumbar interpediculate narrowness 0008484 Thoracolumbar [rarediseases.info.nih.gov]
Musculoskeletal
- Extension of Elbows Limited
elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Long hallux Long big toe 0001847 Lower thoracic kyphosis [rarediseases.info.nih.gov]
- Joint Stiffness
[…] hyperflexibility Joints move beyond expected range of motion 0005692 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Kyphosis Hunched back Round back [ more ] 0002808 Ovoid vertebral bodies 0003300 Prominent forehead Pronounced forehead Protruding [rarediseases.info.nih.gov]
- Dolichocephaly
Brachydactyly Short fingers or toes 0001156 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate short stature 0003498 Dolichocephaly [rarediseases.info.nih.gov]
Face, Head & Neck
- Low Nasal Root
[…] bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate short stature 0003498 Dolichocephaly Long, narrow head Tall and narrow skull [rarediseases.info.nih.gov]
- Depressed Nasal Bridge
nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate short stature 0003498 Dolichocephaly Long, narrow head Tall and narrow [rarediseases.info.nih.gov]
Workup
X-Ray
- Shortened Long Bone
[…] of lower spine 0002938 Radial bowing Bowing of outer large bone of the forearm 0002986 Redundant skin on fingers Extra skin on fingers 0007516 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short [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]