What is Hypochondroplasia?
- A form of dwarfism (skeletal dysplasia)
- Affects conversion of cartilage in to bone growth
- Caused by a mutation in the FGFR3 gene
- Incidence unknown, possibly as common as achondroplasia which occurs 1 in 15,000 to 40,000
- Height for adult men ranges from 138 to 165 cm and adult women 128 to 151 cm
Diagnosis of Hypochondroplasia
- Before birth by:
- Ultrasound scanning
- Testing methods e.g. Chronic villus sampling and DNA linkage studies.
- After birth by:
- Observation of common physical characteristics
- X-rays
What are the common characteristics of Hypochondroplasia?
- Shortened Limbs
- Broad, short hands and feet
- Large head
- Limited range of motion in the elbow
- Sway of the lower back (lordosis)
- Bowed legs
- Small percentage have mild to moderate learning problems
*Please be aware, not all of the characteristics may be present *
Other information about Hypochondroplasia
- Life expectancy is not affected
- Can affect boys and girls equally
Genetics of Hypochondroplasia
- If there is no history of Hypochondroplasia in the family, Hypochondroplasia can be passed on by one parent (dominant) as the result of a mutation
- If one parent has Hypochondroplasia, there is a 50% chance Hypochondroplasia can be passed on to children
Additional reading about Hypochondroplasia
- Genetics Home Reference - Hypochondroplasia
- GeneReviews - NCBI Bookshelf - Hypochondroplasia
- LPA Online - Hypochondroplasia
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*
