Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Achondrogenesis

Orpha number ORPHA932
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q77.0
ICD-O -
OMIM
UMLS
  • C0001079
MeSH -
MedDRA
  • 10066122
SNOMED CT
  • 2391001

Summary

Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms).


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.