achondrogenesis type IB

info · Genetic

An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.

Signs and symptoms

Absent or minimally ossified vertebral bodies
Micromelia
Polyhydramnios
Inguinal hernia
Malar flattening
Abdominal distention
Respiratory insufficiency
Flat face
Edema
Hypoplastic ilia

Also known as: achondrogenesis Fraccaro type