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Achondrogenesis

Abstract

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NORD is very grateful to Giedre Grigelioniene, MD, PhD, Consultant in Pediatrics and Clinical Genetics, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden, for assistance in the preparation of this report.

Synonyms of Achondrogenesis

  • No synonyms found.

Disorder Subdivisions

  • achondrogenesis type IA (Houston-Harris type)
  • achondrogenesis type IB (Fraccaro type)
  • achondrogenesis type II (Langer-Saldino type)

General Discussion

Summary
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.

Introduction
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.

Achondrogenesis Resources

Organizations:

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