achondrogenesis type II
ORPHA: 93296
Overview
achondrogenesis that has material basis in mutations in the COL2A1 gene which results in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located in vertebral column or located in pelvis
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 achondrogenesis type II, sourced from HPO and Orphanet clinical annotations.
Short long boneAbnormal bone ossificationPierre-Robin sequenceAbnormality of the eyeShort ribsNarrow chestHypoplastic iliaEdemaPulmonary hypoplasiaSkeletal dysplasiaMicromeliaShort statureAbsent vertebral body mineralizationDelayed pubic bone ossificationDelayed proximal femoral epiphyseal ossificationMidface retrusionUnossified sacrumDelayed vertebral ossificationHearing impairmentCataractRetinal detachmentMyopiaLens subluxationAbnormal vitreous humor morphologyCardiorespiratory arrest
Classification & Codes
Orphanet Code
ORPHA:93296achondrogenesis type II
| Orphanet | ORPHA:93296 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO