loading...| Preferred Name |
Achondrogenesis |
| ID |
http://www.orpha.net/ORDO/Orphanet_932 |
| definition |
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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
OMIM:600972 OMIM:200610 ICD-10:Q77.0 OMIM:200600 MedDRA:10066122 UMLS:C0001079 ICD-11:LD24.50 |
| label |
Achondrogenesis |
| notation |
ORPHA:932 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_932 |
| prefLabel |
Achondrogenesis |
| present_in |
Europe AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |