Atelosteogenesis, type II
Severe autosomal recessive skeletal disorder with prenatal lethality.
Atelosteogenesis, type II is a severe, rare skeletal disorder. Most affected infants are stillborn, and any who survive birth die shortly after. The condition results from mutations in the SLC26A2 gene and follows an autosomal recessive inheritance pattern.
Quick Facts
- Inheritance
- Autosomal recessive
- Gene
- SLC26A2
- Severity
- Usually stillborn; survivors die soon after birth
Facts from the source article.
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