Pyknoachondrogenesis
MeSH: C536251ORPHA: 3003
Overview
Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Pyknoachondrogenesis, sourced from HPO and Orphanet clinical annotations.
Low-set earsDepressed nasal ridgeWebbed neckShort ribsHorizontal ribsSclerosis of skull baseMicromeliaShort long boneHypoplastic ischiaAbdominal distentionCraniofacial hyperostosisAplastic pubic boneShort thoraxAbnormality of mouth shapeAbnormal iliac wing morphologyAbnormal intramembranous ossificationUnossified sacrumIncreased head circumferencePalpebral edemaEnlarged thoraxMuscular edemaPoorly ossified vertebraeShort iliac bones
Classification & Codes
MeSH Code
C536251Orphanet Code
ORPHA:3003Pyknoachondrogenesis
| MeSH | C536251 |
| Orphanet | ORPHA:3003 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO