achondrogenesis
Sign in to saveAchondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.
Research
261 papers- Achondrogenesis Type 1B.1993
- Achondrogenesis type 1B.Journal of medical genetics · 1996
- Achondrogenesis.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society · 2007
- Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene.Balkan journal of medical genetics : BJMG · 2019
- Osteogenesis Imperfecta.2000
via PubMed
Wikidata facts
- Subclass of
- osteochondrodysplasia
- Image
- Achondrogenesis type I.jpg
Show 6 more facts
- Commons category
- Achondrogenesis
- health specialty
- medical genetics
- exact match
- identifiers.org/doid/DOID:0080043
- NCI Thesaurus ID
- C84527
- has phenotype
- dwarfism
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (3)
via Wikidata · CC0
~2 min read
Encyclopedic overview
2 sectionsContents
- References
- External links
Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.
Researchers have described at least three forms of achondrogenesis, designated as Achondrogenesis type 1A, achondrogenesis type 1B and achondrogenesis type 2. These types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. Other types of achondrogenesis may exist, but they have not been characterized or their cause is unknown.
Excerpted from Wikipedia’s “achondrogenesis” article, available under the CC BY-SA 4.0 licence.