Achondrogenesis

Definition

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

Disease data

Classification

Disease

ORPHA code

932

OMIM code

600972

ICD10 code

Q77.0

ICD11 code

LD24.50

*Soruce