What is Achondrogenesis II?
- Disorders affecting cartilage and bone development
- Caused by mutations in the COL2AQ gene.
- Occurence is around 1 in 40,000-60,000
- Also called Langer-Saldino type
Diagnosis of Achondrogenesis II
- Ultrasound
- Physical characteristics
- Molecular Genetic tests
What are the characteristics of Achondrogenesis II?
- Short limbs
- Narrow chest
- Short ribs
- Lack of ‘normal’ ossification
- Underdeveloped lungs
- Distinct facial features e.g. prominent forehead, small chin
- Possible cleft palate
- Enlarged abdomen
Other information about Achondrogenesis II
- Life expectancy is highly affected
- Affects males and females equally
Genetics of Achondrogenesis II
- If there is no history of Achondrogenesis in the family, Achondrogenesis can be passed on by one parent (dominant) as the result of a mutation
