Fibrodysplasia Ossificans Progressiva
ICD-10: 4B41.0MeSH: D009221ORPHA: 337
Overview
An extremely rare genetic condition where muscle and connective tissue gradually turn to bone, forming a second skeleton. Caused by mutations in the ACVR1 gene. Affects approximately 1 in 2 million people worldwide with no ethnic or geographical predisposition.
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 Fibrodysplasia Ossificans Progressiva, sourced from HPO and Orphanet clinical annotations.
Ectopic ossificationLimitation of joint mobilitySubcutaneous noduleAbnormal hallux morphologyFused cervical vertebraeSpinal rigidityAbnormal vertebral morphologyAbnormality of the first metatarsal boneShort halluxEctopic ossification in muscle tissueEctopic ossification in ligament tissueOsteochondromaHearing impairmentAbnormal thumb morphologyHip dysplasiaAlopeciaRespiratory insufficiencyScoliosisIncreased susceptibility to fracturesAbnormal femoral neck morphologyAplasia/Hypoplasia of the phalanges of the halluxClinodactylyHip painNephrolithiasisLymphedemaFailure to thriveHallux valgusDeep venous thrombosisEnchondromaSynostosis of jointsGlaucomaIntellectual disabilitySeizureAnemiaDelayed skeletal maturation
Classification & Codes
ICD-10 Code
4B41.0MeSH Code
D009221Orphanet Code
ORPHA:337Fibrodysplasia Ossificans Progressiva
| ICD-10 | 4B41.0 |
| MeSH | D009221 |
| Orphanet | ORPHA:337 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/21/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO