Achondrogenesis

Symptoms

What are the main symptoms of achondrogenesis?

Achondrogenesis is usually a lethal condition. They infants are often stillborn or die shortly after birth from respiratory failure.

Achondrogenesis type 1A infants have extremely short limbs, a narrow chest, short ribs that fracture easily and a lack of normal bone development in the skull, spine and pelvis.

Achondrogenesis type 1B infants have extremely short limbs, narrow chest, and a prominent rounded abdomen. The fingers and the toes are short and there may be club feet. The often have an umbilical hernia and will sometimes have a hernia in the groin.

Achondrogeneis type 2 infants have short arms and legs, a narrow chest with short ribs and underdeveloped lungs. There is also a lack of normal bone development in the spine and pelvis. There are facial features that include a prominent forehead, a small chin and a cleft palate.

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