loading...| Preferred Name |
Achondrogenesis type 2 |
| ID |
http://www.orpha.net/ORDO/Orphanet_93296 |
| alternative_term |
Achondrogenesis, Langer-Saldino type |
| definition |
A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
OMIM:200610 MeSH:C536017 UMLS:C0220685 ICD-10:Q77.0 ICD-11:LD24.50 |
| label |
Achondrogenesis type 2 |
| notation |
ORPHA:93296 Clinical subtype |
| part_of | |
| prefixIRI |
ORDO:Orphanet_93296 |
| prefLabel |
Achondrogenesis type 2 |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |