What is Kniest Dysplasia?
- A form of dwarfism
- Affects bone growth
- Average height of an adult is 42 inches to 58 inches
- Exact incidence unknown
- Mutation in the COL2A1 gene
Diagnosis of Kniest 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 common characteristics of Kniest Dysplasia?
- Short stature
- Short trunk
- Shortened arms and legs
- Large joints
- Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity)
- Flattened vertebrae (platyspondyly) (differing severity)
- Foot deformity (clubfoot) (differing severity)
- Arthritis and decreased joint mobility (differing severity)
- Mild changes in facial features (differing severity)
- Cleft palate (differing severity)
- Severe nearsightedness (myopia) (differing severity)
- Hearing loss (differing severity)
*Please be aware, not all of the characteristics may be present*
Other information about Kniest Dysplasia
- Life expectancy is not affected
- Intelligence is not affected
- Affects boys and girls equally
Genetics of Kniest Dysplasia
- If there is no history of Kniest Dysplasia in the family, Kniest Dysplasia can be passed on by one parent (dominant) as the result of a mutation
Additional reading about Kniest Dysplasia
- Genetics Home Reference - Kneist Dysplasia
- GeneReview - NCBI Bookshelf - Kneist Dysplasia
- National Organisation for Rare Disorders - Kneist Dysplasia
- Nemours
- LPA Online - Kneist Dysplasia
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*
