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What is achondrogenesis?

Achondrogenesis is a group of genetic disorders that severely affect cartilage and bone development in unborn babies. The condition is a type of osteochondrodysplasia, which causes several types of short stature (dwarfism) due to abnormal bone and cartilage growth.

Achondrogenesis has three main types (1A, 1B and 2), and each has slightly different signs, symptoms and causes. With all types, babies have a higher chance of being born prematurely or being stillborn. Achondrogenesis causes severely underdeveloped lungs, and because of this, babies who have the condition don’t survive more than a few days after birth.

What causes achondrogenesis?

Genetic mutations (changes in genes) cause achondrogenesis; each type of achondrogenesis is related to a specific mutation. Mutations that a person inherits from both parents cause achondrogenesis types 1A and 1B. Type 2 almost always results from new mutations that happen at conception in babies who have no family history of the disorder.

Who gets achondrogenesis?

Achondrogenesis affects males and females equally. Achondrogenesis type 1A and type 1B are very rare disorders, and researchers aren’t sure how frequently they occur. Achondrogenesis type 2 occurs in about one out of 40,000 to 60,000 births.

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