Femoral-facial syndrome
MeSH: C537916ORPHA: 19881 Treatment Available
Overview
Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Growth hormone (somatropin) Orphan Cold Chain | Subcutaneous injection, 5mg, 12mg cartridges | FDA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with Femoral-facial syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateMicrognathiaShort femurOrofacial cleftThin upper lip vermilionLong philtrumLow-set earsUpslanted palpebral fissureHip dysplasiaTalipes equinovarusPreaxial foot polydactylyAbnormal pelvic girdle bone morphologyCoxa varaAbnormal fibula morphologyShort noseVertebral segmentation defectShort statureAbnormal sacrum morphologyAplasia/Hypoplasia of the tibiaMicrotiaInguinal herniaCryptorchidismLong penisPolycystic kidney dysplasiaStrabismusAbnormal rib morphologyRib fusionSprengel anomalyVentriculomegalyScoliosisRadioulnar synostosisAplasia/Hypoplasia of the corpus callosumRenal hypoplasia/aplasiaAbnormal cardiovascular system morphologyAbnormal localization of kidney
Classification & Codes
MeSH Code
C537916Orphanet Code
ORPHA:1988Femoral-facial syndrome
| MeSH | C537916 |
| Orphanet | ORPHA:1988 |
| Treatments | 1 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO