achondrogenesis
Findings
No curated finding names achondrogenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019648), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal enchondral ossificationHPOHP:0003336
- Very frequent (80% to 99% of cases)
- Abnormality of bone mineral densityHPOHP:0004348
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Severe short statureHPO · MondoHP:0003510
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Thickened nuchal skin foldHPOHP:0000474
- Very frequent (80% to 99% of cases)