Achondrogenesis
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How early in the pregnancy can achondrogenesis be detected?
The short limbs and small chest can be seen as early as the anatomy scan routinely done at 20 weeks gestation. The small chest and short limbs may be identified earlier.
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What mutation of achondrogenesis can be tested during a pregnancy?
What support groups are available for achondrogenesis?
What prevents achondrogenesis?
Can I still contract achondrogenesis after a normal ultrasound?
If my baby is normal in utero can it develop achondrogenesis?
Are there variant versions of achondrogenesis?
Are carriers of a SLC26A2 mutation at an increased risk for anything?
Are there similar versions of achondrogenesis?
Do people with achondroplasia have a shortened life span?
What mutation of achondrogenesis can be tested during a pregnancy?
If a familial mutation(s) are known then other pregnancies can be tested for during the pregnancy.
What support groups are available for achondrogenesis?
Both Compassionate Friends and Helping After Neonatal Death Support Groups may be beneficial to parents.
What prevents achondrogenesis?
There is nothing that prevents achondrogenesis
Can I still contract achondrogenesis after a normal ultrasound?
Achondrogenesis is not likely if prenatal ultrasounds are normal.
If my baby is normal in utero can it develop achondrogenesis?
If your children are developing normal in utero and after birth then a diagnosis of achondrogenesis is not possible.
Are there variant versions of achondrogenesis?
Due to the severity of the condition and it being a lethal skeletal dysplasia, all have been found to be new mutations, or rarely gonadal mosaicism.
Are carriers of a SLC26A2 mutation at an increased risk for anything?
Carriers of a mutation in the SLC26A2 gene are not at an increased risk for a degenerative bone joint disease.
Are there similar versions of achondrogenesis?
Your child may have a diagnosis of hypochondorgenesis, which is similar to achondrogenesis with different mutations in the same gene.
Do people with achondroplasia have a shortened life span?
Individuals with achondroplasia can have a normal life span and have limb abnormalities, but the size of the chest and ribs is not affected. It is also caused by mutations in a different gene.
