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Achondrogenesis

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to John M. Opitz, MD, Dsci, Professor of Pediatrics (Medical Genetics), Human Genetics, Pathology and Obstetrics and Gynecology, University of Utah School of Medicine, 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

Achondrogenesis is a group of rare disorders characterized by extreme short-limb dwarfism, abnormal development of ribs and other skeletal abnormalities. The health problems associated with these conditions are life-threatening and most affected infants die before birth, are stillborn or die shortly after birth of respiratory failure. Achondrogenesis type IA and type IB, are autosomal recessive genetic conditions. Achondrogenesis type II is an autosomal dominant genetic condition.

Organizations related to Achondrogenesis

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