fibrochondrogenesis
MeSH: C562524ORPHA: 2021
Overview
Human disease
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 fibrochondrogenesis, sourced from HPO and Orphanet clinical annotations.
Narrow mouthCleft palateWide anterior fontanelRound faceHypertelorismHearing abnormalityLow-set earsAnteverted naresShort neckDownslanted palpebral fissuresProptosisAbnormal rib morphologyShort ribsNarrow chestHypoplastic scapulaeBroad ribsAbnormal diaphysis morphologyAbnormal metaphysis morphologyBrachydactylyPlagiocephalyOmphaloceleBell-shaped thoraxHypoplastic fingernailRespiratory insufficiencyMicromeliaAbnormal form of the vertebral bodiesShort statureDepressed nasal bridgeCamptodactyly of finger
Classification & Codes
MeSH Code
C562524Orphanet Code
ORPHA:2021fibrochondrogenesis
| MeSH | C562524 |
| Orphanet | ORPHA:2021 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO