National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Achondrogenesis is not the name you expected.
Achondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening and most affected infants are stillborn or die shortly after birth due to respiratory failure. 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.
The term achondrogenesis was first used in the medical literature in 1952 by an Italian pathologist named Marco Fraccaro. Achondrogenesis is derived from Greek and means "not producing cartilage." Achondrogenesis belongs to group of skeletal dysplasias, (osteochondrodysplasias), a broad term for a group of disorders characterized by abnormal growth or development of cartilage and bone.
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European Skeletal Dysplasia Network
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Restricted Growth Association
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 12/22/1969
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