pyknoachondrogenesis
MONDO:0009942Mondo
Findings
No curated finding names pyknoachondrogenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
Definition from the Mondo Disease Ontology (MONDO:0009942), 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.
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Abnormal iliac wing morphologyHPOHP:0011867
- Frequent (30% to 79% of cases)
- Abnormal intramembranous ossificationHPOHP:0012790
- Frequent (30% to 79% of cases)
- Abnormality of mouth shapeHPOHP:0011338
- Frequent (30% to 79% of cases)
- Aplastic pubic boneHPOHP:0008817
- Frequent (30% to 79% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Frequent (30% to 79% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Frequent (30% to 79% of cases)
- Enlarged thoraxHPOHP:0100625
- Frequent (30% to 79% of cases)
- Horizontal ribsHPOHP:0000888
- Frequent (30% to 79% of cases)
- Hypoplastic ischiaHPOHP:0003175
- Frequent (30% to 79% of cases)
- Increased head circumferenceHPOHP:0040194
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
Show the remaining 11
- MicromeliaHPOHP:0002983
- Frequent (30% to 79% of cases)
- Muscular edemaHPOHP:0100748
- Frequent (30% to 79% of cases)
- Palpebral edemaHPOHP:0100540
- Frequent (30% to 79% of cases)
- Poorly ossified vertebraeHPOHP:0100856
- Frequent (30% to 79% of cases)
- Sclerosis of skull baseHPOHP:0002694
- Frequent (30% to 79% of cases)
- Short iliac bonesHPOHP:0100866
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: pyknoachondrogenesis
- Also called
- camera syndrome