What is Pseudoachondroplasia?
- A form of dwarfism (skeletal dysplasia)
- Affects bone growth and development
- Caused by a mutation in the COMP genes
- Exact incidence unknown thought to occur 1 in every 30,000
- Average height of adult male is 120 cm and average height of adult female is 116 cm
Diagnosis of Pseudoachondroplasia
- Before birth by:
- Testing methods e.g. DNA analysis
- After birth by:
- Observation of common physical characteristics
- X-rays
What are the common characteristics of Pseudoachondroplasia?
- Shortened Limbs
- Short stubby fingers
- Waddling walk
- Joint pain (with age)
- Large range of joint movement (hyperextensibility) in hands, knees and ankles
- Limited range of motion in the elbows, and hips
- Some people have legs that turn outwards (valgus) or inwards (varus). Occasionally have one leg turning in, the other turning out (windswept)
- Sometimes have curved spine (scoliosis)
- ‘Normal’ facial features
*Please be aware, not all of these characteristics may be present*
Other information about Pseudoachondroplasia
- Life expectancy is not affected
- Intelligence is not affected
- Diagnosis may not occur until around 2 years of age, when physical characteristics maybe apparent.
- Can affect boys and girls equally
Genetics of Pseudoachondroplasia
- If there is no history of Pseudoachondroplasia in the family, Pseudoachondroplasia can be passed on by one parent (dominant) as the result of a mutation
- If one parent has Pseudoachondroplasia, there is a 50% chance Pseudoachondroplasia can be passed on to children
Additional reading about Pseudoachondroplasia
- Genetics Home Reference - Pseudoachondroplasia
- GeneReviews NCBI Bookshelf - Pseudoachondroplasia
- National Organisation for Rare Disorders (NORD) - Pseudoachondroplasia
- LPA Online - Pseudoachondroplasia
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*
