FGFR2-related bent bone dysplasia
ORPHA: 313855
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 FGFR2-related bent bone dysplasia, sourced from HPO and Orphanet clinical annotations.
Gingival overgrowthHypertelorismMicrognathiaAbnormality of the outer earLow-set earsMegalocorneaNatal toothShort claviclesOsteopeniaHirsutismBrachydactylyBell-shaped thoraxExtramedullary hematopoiesisHypoplastic ischiaCoronal craniosynostosisOverfolding of the superior helicesDecreased calvarial ossificationEarly-onset non-progressive night blindnessClitoral hypertrophySteep acetabular roofMetopic depressionMidface retrusionIncomplete ossification of pubisAbnormal periosteum morphologyHepatosplenomegalyAbnormality of the lower limbBowing of the legs
Classification & Codes
Orphanet Code
ORPHA:313855FGFR2-related bent bone dysplasia
| Orphanet | ORPHA:313855 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO