Conditions / Genetic
achondrogenesis type II
info · Genetic
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
Signs and symptoms
- Long philtrum
- Abnormally large globe
- Short long bone
- Delayed tibial epiphyseal ossification
- Microretrognathia
- Protuberant abdomen
- Frontal bossing
- Brachycephaly
- Barrel-shaped chest
- Crescent-shaped iliac bone