Achondrogenesis type IA

Achondrogenesis type IA is a subform of achondrogenesis that describes a lethal skeletal dysplasia with no endochondral ossification. The children suffer from severe congenital dwarfism, stubby limbs and a short trunk. There are often rib fractures.

Children with this disease are born dead or die during their first days of life.

The cause is a mutation in the TRIP11 gene at the locus 14q32.12. The inheritance is autosomal recessive.