Atelosteogenesis

Atelosteogenesis type 2
Overview
Atelosteogenesis, type II is a severe disorder of cartilage and bone development.

Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone.

Atelosteogenesis
severe dwarfing dysplasia, which may be sporadic but is also inherited as an autosomal recessive condition. Three varieties, no. 1, 2 and 3, are described. No. 1 and 2 are lethal in the neonatal period, no. 3 in infancy.

Meaning: Atelosteogenesis
Other abbreviations from this category
Abbreviations ...

Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.

See also: Dysplasia, Neonatal, Autosomal recessive, Polydactyly, Symptom