Achondrogenesis type 1B

Achondrogenesis type 1B
Achondrogenesis type 1B has an autosomal recessive mode of inheritance.
Specialty	Medical genetics

Achondrogenesis type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the perinatal period.^[1] It is distinguished by its elongated, spherical midsection, small chest, and exceedingly short limbs. The feet can turn inward and upward (clubfeet), and the fingers and toes are little. Babies affected often have a soft out-pouching at the groin (an inguinal hernia) or around the belly button (an umbilical hernia).^[2]