What is Spondyloperipheral Dysplasia?
- A form of dwarfism (skeletal dysplasia)
- Affects bone growth
- Can be caused by a mutation in the COL2A1 gene
- Incidence not known, only a few affected people worldwide
- Recorded heights of 108cm to 154 cm adults
Diagnosis of Spondyloperipheral Dysplasia
- Before birth by:
- Ultrasound scanning
- Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis.
- After birth by:
- Observation of common physical characteristics
- X-rays
What are the common characteristics of Spondyloperipheral Dysplasia?
- Short stature
- Shortened long bones of arms and legs
- Flattened bones of the spine (platyspondyly)
- Shorter fingers and toes - except the big toe (brachydactyl)
- Curvature of the lower back (lordosis)
- Feet deformity (club foot)
- Occasional near sightendness (myopia)
- Possibly hearing loss
- Reduced joint mobility
*Please be aware, not all of the characteristics may be present*
Other information about Spondyloperipheral Dysplasia
- Life expectancy is not affected
- Intelligence possibly affected
- Can affect boys and girls equally
Genetics of Spondyloperipheral Dysplasia
- If there is no history of Spondyloperipheral Dysplasia in the family, Spondyloperipheral Dysplasia is thought to be passed on by one parent (dominant) as the result of a mutation
Additional reading about Spondyloperipheral Dysplasia
- Genetics Home Reference - Spondyloperipheral Dysplasia
- GeneReviews - NCBI Bookshelf - Spondyloperipheral Dysplasia
- OMIM
- Genetic And Rare Disease Reference Centre
*Little People UK are not responsible for external website*