clinical features
Last reviewed 01/2018
Features are variable, but may include:
- recognition at two or three years old with the development of rhizomelic short stature
- normal head size
- normal nasal bridge and mandible - distinct from achondroplasia
- short hands and feet; stocky and muscular build
Other possible features, which are always present and severe in achondroplasia, include:
- prominent lumbar lordosis
- pelvic tilt
- mild limitation of movement of extension at the elbows
hepatic and gastrointestinal sarcoidosis