What is Rhizomelic Chondrodysplasia Punctata?
- A form of dwarfism (skeletal dysplasia)
- A result on inefficient enzyme activity
- Can be caused by a mutation in the PEX7, GNPAT, AGPS gene
- Affects fewer than 1 in 100,000
Diagnosis of Rhizomelic Chondrodysplasia Punctata
- After birth
- Enzyme assay
- Genetic testing
- Presence of clinical findings
- Observation of physical characteristics
What are the common characteristics of Rhizomelic Chondrodysplasia Punctata?
- Short stature
- Shortening of upper arms and thighs
- Joint deformities
- Distinct facial features
- Clouding of the lens of the eye (cataracts)
- Delayed intellectual development
- Respiratory issues
*Please be aware, not all of the characteristics may be present*
Other information about Rhizomelic Chondrodysplasia Punctata
- Life expectancy is affected
- Intelligence is affected
- Can affect boys and girls
Genetics of Rhizomelic Chondrodysplasia Punctata
- If there is no history of Rhizomelic Chondrodysplasia Punctata in the family, Rhizomelic Chondrodysplasia Punctata is passed on by both parents (recessive) as the result of a mutation.
Additional reading about Rhizomelic Chondrodysplasia Punctata
- Genetic Home Reference - Rhizomelic Chondrodysplasia Punctata
- GeneReviews - NCBI Bookshelf - Rhizomelic Chondrodysplasia Punctata
- OMIM - Rhizomelic Chondrodysplasia Punctata
- Baby Med - Rhizomelic Chondrodysplasia Punctata
Other supporting organisations
