What is Achondrogenesis 1a?
- Disorder affecting cartilage and bone development
- Caused by mutations in the TRIP11 gene.
- Incidence is unknown
- Also called Houston-Harris type
Diagnosis of Achondrogenesis 1a
- Radiographic findings
- Physical characteristics
- Molecular genetic testing
What are the characteristics of Achondrogenesis 1a?
- Extremely short limbs
- Narrow chest
- Short ribs
- Easily fractured
- Lack of ‘normal’ ossification
- Fluid accumulation in the body
- Facial characteristics
Other information about Achondrogenesis 1a
- Life expectancy is highly affected
- Least well understood of the 3 types
- Distinguished by type 1b with genetic testing
- Affects males and females equally
Genetics of Achondrogenesis 1a
- Passed on by a gene from both parents (recessive)