What is Achondrogenesis 1b?
- Disorder affecting cartilage and bone development
- Caused by mutations in the SLC26A2 gene.
- Incidence is unknown
- Also called Parenti-Fraccaro type
Diagnosis of Achondrogenesis 1b
- Physical characteristics
- Molecular genetic testing
What are the characteristics of Achondrogenesis 1b?
- Extremely short limbs
- Narrow chest
- Prominent abdomen
- Short fingers and toes
- Possible clubfeet
- Frequently have umbilical hernia or inguinal hernia
Other information about Achondrogenesis 1b
- Life expectancy is highly affected
- Most sever of all 3 types
- Distinguished by type 1a with genetic testing
- Affects males and females equally
Genetics of Achondrogenesis 1b
- Passed on by a gene from both parents (recessive)