Achondrogenesis News and Information

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Achondrogenesis News and Information

See below for updated news and information regarding Achondrogenesis including new research, treatments and advancements. 

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Achondrogenesis refers to a group of rare skeletal dysplasias which affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.

All types of achondrogenesis are genetic conditions; type IA and type IB, are autosomal recessive disorders, whereas achondrogenesis type II is an autosomal dominant disorder. All types of achondrogenesis are very severe skeletal dysplasias usually detected by prenatal ultrasound examination as early as week 14-17 of gestational age.

Source: U.S. Department of Health & Human Services